A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characterized by early and extreme aortic and valvular calcification, dental anomalies (early-onset periodontitis and root resorption), osteopenia, and acro-osteolysis. To determine the molecular etiology of thi...

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Published in	American journal of human genetics Vol. 96; no. 2; pp. 275 - 282
Main Authors	Rutsch, Frank, MacDougall, Mary, Lu, Changming, Buers, Insa, Mamaeva, Olga, Nitschke, Yvonne, Rice, Gillian I., Erlandsen, Heidi, Kehl, Hans Gerd, Thiele, Holger, Nürnberg, Peter, Höhne, Wolfgang, Crow, Yanick J., Feigenbaum, Annette, Hennekam, Raoul C.
Format	Journal Article
Language	English
Published	United States Elsevier Inc 05.02.2015 Cell Press Elsevier
Subjects	Amino Acid Sequence Aortic Diseases - genetics Arteries - pathology Autoimmune diseases Base Sequence Calcinosis - genetics Calcinosis - pathology DEAD-box RNA Helicases - chemistry DEAD-box RNA Helicases - genetics DEAD-box RNA Helicases - metabolism Dental Enamel Hypoplasia - genetics Exome - genetics Genes, Dominant - genetics Genetic disorders Genomics Humans Immunohistochemistry Interferon Interferon-beta - metabolism Interferon-Induced Helicase, IFIH1 Metacarpus - abnormalities Models, Molecular Molecular Sequence Data Muscular Diseases - genetics Mutation Mutation, Missense - genetics Odontodysplasia - genetics Osteoporosis - genetics Pedigree Phenotype Sequence Analysis, DNA Tooth Abnormalities - genetics Tooth Abnormalities - pathology Vascular Calcification - genetics
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Abstract	Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characterized by early and extreme aortic and valvular calcification, dental anomalies (early-onset periodontitis and root resorption), osteopenia, and acro-osteolysis. To determine the molecular etiology of this disease, we performed whole-exome sequencing and targeted Sanger sequencing. We identified a common missense mutation, c.2465G>A (p.Arg822Gln), in interferon induced with helicase C domain 1 (IFIH1, encoding melanoma differentiation-associated protein 5 [MDA5]) in four SMS subjects from two families and a simplex case. IFIH1 has been linked to a number of autoimmune disorders, including Aicardi-Goutières syndrome. Immunohistochemistry demonstrated the localization of MDA5 in all affected target tissues. In vitro functional analysis revealed that the IFIH1 c.2465G>A mutation enhanced MDA5 function in interferon beta induction. Interferon signature genes were upregulated in SMS individuals’ blood and dental cells. Our data identify a gain-of-function IFIH1 mutation as causing SMS and leading to early arterial calcification and dental inflammation and resorption.
AbstractList	Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characterized by early and extreme aortic and valvular calcification, dental anomalies (early-onset periodontitis and root resorption), osteopenia, and acro-osteolysis. To determine the molecular etiology of this disease, we performed whole-exome sequencing and targeted Sanger sequencing. We identified a common missense mutation, c.2465G>A (p.Arg822Gln), in interferon induced with helicase C domain 1 (IFIH1, encoding melanoma differentiation-associated protein 5 [MDA5]) in four SMS subjects from two families and a simplex case. IFIH1 has been linked to a number of autoimmune disorders, including Aicardi-Goutières syndrome. Immunohistochemistry demonstrated the localization of MDA5 in all affected target tissues. In vitro functional analysis revealed that the IFIH1 c.2465G>A mutation enhanced MDA5 function in interferon beta induction. Interferon signature genes were upregulated in SMS individuals' blood and dental cells. Our data identify a gain-of-function IFIH1 mutation as causing SMS and leading to early arterial calcification and dental inflammation and resorption. Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characterized by early and extreme aortic and valvular calcification, dental anomalies (early-onset periodontitis and root resorption), osteopenia, and acro-osteolysis. To determine the molecular etiology of this disease, we performed whole-exome sequencing and targeted Sanger sequencing. We identified a common missense mutation, c.2465G>A (p.Arg822Gln), in interferon induced with helicase C domain 1 (IFIH1, encoding melanoma differentiation-associated protein 5 [MDA5]) in four SMS subjects from two families and a simplex case. IFIH1 has been linked to a number of autoimmune disorders, including Aicardi-Goutieres syndrome. Immunohistochemistry demonstrated the localization of MDA5 in all affected target tissues. In vitro functional analysis revealed that the IFIH1 c.2465G>A mutation enhanced MDA5 function in interferon beta induction. Interferon signature genes were upregulated in SMS individuals' blood and dental cells. Our data identify a gain-of-function IFIH1 mutation as causing SMS and leading to early arterial calcification and dental inflammation and resorption. Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characterized by early and extreme aortic and valvular calcification, dental anomalies (early-onset periodontitis and root resorption), osteopenia, and acro-osteolysis. To determine the molecular etiology of this disease, we performed whole-exome sequencing and targeted Sanger sequencing. We identified a common missense mutation, c.2465G>A (p.Arg822Gln), in interferon induced with helicase C domain 1 ( IFIH1 , encoding melanoma differentiation-associated protein 5 [MDA5]) in four SMS subjects from two families and a simplex case. IFIH1 has been linked to a number of autoimmune disorders, including Aicardi-Goutières syndrome. Immunohistochemistry demonstrated the localization of MDA5 in all affected target tissues. In vitro functional analysis revealed that the IFIH1 c.2465G>A mutation enhanced MDA5 function in interferon beta induction. Interferon signature genes were upregulated in SMS individuals’ blood and dental cells. Our data identify a gain-of-function IFIH1 mutation as causing SMS and leading to early arterial calcification and dental inflammation and resorption. Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characterized by early and extreme aortic and valvular calcification, dental anomalies (early-onset periodontitis and root resorption), osteopenia, and acro-osteolysis. To determine the molecular etiology of this disease, we performed whole-exome sequencing and targeted Sanger sequencing. We identified a common missense mutation, c.2465G>A (p.Arg822Gln), in interferon induced with helicase C domain 1 (IFIH1, encoding melanoma differentiation-associated protein 5 [MDA5]) in four SMS subjects from two families and a simplex case. IFIH1 has been linked to a number of autoimmune disorders, including Aicardi-Goutières syndrome. Immunohistochemistry demonstrated the localization of MDA5 in all affected target tissues. In vitro functional analysis revealed that the IFIH1 c.2465G>A mutation enhanced MDA5 function in interferon beta induction. Interferon signature genes were upregulated in SMS individuals' blood and dental cells. Our data identify a gain-of-function IFIH1 mutation as causing SMS and leading to early arterial calcification and dental inflammation and resorption.Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characterized by early and extreme aortic and valvular calcification, dental anomalies (early-onset periodontitis and root resorption), osteopenia, and acro-osteolysis. To determine the molecular etiology of this disease, we performed whole-exome sequencing and targeted Sanger sequencing. We identified a common missense mutation, c.2465G>A (p.Arg822Gln), in interferon induced with helicase C domain 1 (IFIH1, encoding melanoma differentiation-associated protein 5 [MDA5]) in four SMS subjects from two families and a simplex case. IFIH1 has been linked to a number of autoimmune disorders, including Aicardi-Goutières syndrome. Immunohistochemistry demonstrated the localization of MDA5 in all affected target tissues. In vitro functional analysis revealed that the IFIH1 c.2465G>A mutation enhanced MDA5 function in interferon beta induction. Interferon signature genes were upregulated in SMS individuals' blood and dental cells. Our data identify a gain-of-function IFIH1 mutation as causing SMS and leading to early arterial calcification and dental inflammation and resorption.
Author	Erlandsen, Heidi Crow, Yanick J. Nürnberg, Peter Rutsch, Frank Mamaeva, Olga Feigenbaum, Annette Nitschke, Yvonne Rice, Gillian I. Höhne, Wolfgang Lu, Changming Buers, Insa Thiele, Holger Hennekam, Raoul C. MacDougall, Mary Kehl, Hans Gerd
AuthorAffiliation	6 Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany 7 Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50931 Cologne, Germany 4 Department of Pediatric Cardiology, Muenster University Children’s Hospital, 48149 Muenster, Germany 10 Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of San Diego, San Diego, CA 92123, USA 1 Department of General Pediatrics, Muenster University Children’s Hospital, 48149 Muenster, Germany 5 Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany 9 Paris Descartes – Sorbonne Paris Cité University, Institute Imagine, Paris 75006, France 2 Institute of Oral Health Research, School of Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294, USA 8 INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris 75015, France 3 Manchester Academic Health Science Centre, University of Manchester, Genetic
AuthorAffiliation_xml	– name: 4 Department of Pediatric Cardiology, Muenster University Children’s Hospital, 48149 Muenster, Germany – name: 10 Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of San Diego, San Diego, CA 92123, USA – name: 5 Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany – name: 11 Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam 1105 AZ, the Netherlands – name: 8 INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris 75015, France – name: 9 Paris Descartes – Sorbonne Paris Cité University, Institute Imagine, Paris 75006, France – name: 1 Department of General Pediatrics, Muenster University Children’s Hospital, 48149 Muenster, Germany – name: 2 Institute of Oral Health Research, School of Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294, USA – name: 6 Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany – name: 7 Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50931 Cologne, Germany – name: 3 Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester M13 9PT, UK
Author_xml	– sequence: 1 givenname: Frank surname: Rutsch fullname: Rutsch, Frank email: rutschf@ukmuenster.de organization: Department of General Pediatrics, Muenster University Children’s Hospital, 48149 Muenster, Germany – sequence: 2 givenname: Mary surname: MacDougall fullname: MacDougall, Mary email: macdougall@uab.edu organization: Institute of Oral Health Research, School of Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294, USA – sequence: 3 givenname: Changming surname: Lu fullname: Lu, Changming organization: Institute of Oral Health Research, School of Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294, USA – sequence: 4 givenname: Insa surname: Buers fullname: Buers, Insa organization: Department of General Pediatrics, Muenster University Children’s Hospital, 48149 Muenster, Germany – sequence: 5 givenname: Olga surname: Mamaeva fullname: Mamaeva, Olga organization: Institute of Oral Health Research, School of Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294, USA – sequence: 6 givenname: Yvonne surname: Nitschke fullname: Nitschke, Yvonne organization: Department of General Pediatrics, Muenster University Children’s Hospital, 48149 Muenster, Germany – sequence: 7 givenname: Gillian I. surname: Rice fullname: Rice, Gillian I. organization: Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester M13 9PT, UK – sequence: 8 givenname: Heidi surname: Erlandsen fullname: Erlandsen, Heidi organization: Institute of Oral Health Research, School of Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294, USA – sequence: 9 givenname: Hans Gerd surname: Kehl fullname: Kehl, Hans Gerd organization: Department of Pediatric Cardiology, Muenster University Children’s Hospital, 48149 Muenster, Germany – sequence: 10 givenname: Holger surname: Thiele fullname: Thiele, Holger organization: Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany – sequence: 11 givenname: Peter surname: Nürnberg fullname: Nürnberg, Peter organization: Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany – sequence: 12 givenname: Wolfgang surname: Höhne fullname: Höhne, Wolfgang organization: Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany – sequence: 13 givenname: Yanick J. surname: Crow fullname: Crow, Yanick J. organization: Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester M13 9PT, UK – sequence: 14 givenname: Annette surname: Feigenbaum fullname: Feigenbaum, Annette organization: Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of San Diego, San Diego, CA 92123, USA – sequence: 15 givenname: Raoul C. surname: Hennekam fullname: Hennekam, Raoul C. organization: Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam 1105 AZ, the Netherlands
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Cites_doi	10.1038/ng.694 10.1126/science.1167728 10.1089/1066527041410418 10.1016/j.immuni.2013.05.007 10.1093/bioinformatics/btp324 10.1016/S1097-2765(01)00329-X 10.1016/j.cell.2012.11.048 10.1016/S1074-7613(00)00053-4 10.1046/j.1365-2958.1999.01659.x 10.1016/j.ajhg.2014.06.007 10.1002/ajmg.a.35732 10.1016/j.gene.2005.10.019 10.2337/db08-0753 10.1038/ng.2933 10.1038/ng1800 10.1007/BF00972817 10.3109/08820139.2014.909455 10.3109/03008207.2014.923880 10.1093/hmg/ddr215 10.1016/j.immuni.2013.12.014 10.1038/ncomms5331 10.1101/gr.107524.110 10.1007/s10753-012-9564-0
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Copyright	2015 The American Society of Human Genetics Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. Copyright Cell Press Feb 5, 2015 2015 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2015 The American Society of Human Genetics
Copyright_xml	– notice: 2015 The American Society of Human Genetics – notice: Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. – notice: Copyright Cell Press Feb 5, 2015 – notice: 2015 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2015 The American Society of Human Genetics
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References	Funabiki, Kato, Miyachi, Toki, Motegi, Inoue, Minowa, Yoshida, Deguchi, Sato (bib9) 2014; 40 Sato, Suemori, Hata, Asagiri, Ogasawara, Nakao, Nakaya, Katsuki, Noguchi, Tanaka, Taniguchi (bib23) 2000; 13 Yeo, Burge (bib6) 2004; 11 Lu, Mamaeva, Cui, Amm, Rutsch, MacDougall (bib3) 2014; 55 Goubau, Deddouche, Reis e Sousa (bib7) 2013; 38 Rice, del Toro Duany, Jenkinson, Forte, Anderson, Ariaudo, Bader-Meunier, Baildam, Battini, Beresford (bib21) 2014; 46 Wu, Peisley, Richards, Yao, Zeng, Lin, Chu, Walz, Hur (bib12) 2013; 152 Nejentsev, Walker, Riches, Egholm, Todd (bib20) 2009; 324 Strange, Capon, Spencer, Knight, Weale, Allen, Barton, Band, Bellenguez, Bergboer (bib13) 2010; 42 Bijlmakers, Kanneganti, Barker, Trembath, Capon (bib16) 2011; 20 Feigenbaum, Müller, Yale, Kleinheinz, Jezewski, Kehl, MacDougall, Rutsch, Hennekam (bib2) 2013; 161A Li, Durbin (bib4) 2009; 25 Tanner, Linder (bib10) 2001; 8 Dou, Peng, Zhou, Lin, Li, Yang, Xie, Li, Zhang, Rao (bib15) 2014; 43 Smyth, Cooper, Bailey, Field, Burren, Smink, Guja, Ionescu-Tirgoviste, Widmer, Dunger (bib18) 2006; 38 Singleton, Merten (bib1) 1973; 1 Cen, Leng, Wang, Zhou, Feng, Zhu, Yang, Yang, Zhai, Li (bib17) 2013; 36 Cordin, Banroques, Tanner, Linder (bib11) 2006; 367 Concannon, Onengut-Gumuscu, Todd, Smyth, Pociot, Bergholdt, Akolkar, Erlich, Hilner, Julier (bib19) 2008; 57 Oda, Nakagawa, Abe, Awaya, Funabiki, Hijikata, Nishikomori, Funatsuka, Ohshima, Sugawara (bib22) 2014; 95 Sheng, Jin, Xu, Gao, Du, Duan, Li, Zhao, Zhan, Tang (bib14) 2014; 5 McKenna, Hanna, Banks, Sivachenko, Cibulskis, Kernytsky, Garimella, Altshuler, Gabriel, Daly, DePristo (bib5) 2010; 20 Hall, Matson (bib8) 1999; 34 McKenna (10.1016/j.ajhg.2014.12.014_bib5) 2010; 20 Goubau (10.1016/j.ajhg.2014.12.014_bib7) 2013; 38 Li (10.1016/j.ajhg.2014.12.014_bib4) 2009; 25 Cordin (10.1016/j.ajhg.2014.12.014_bib11) 2006; 367 Feigenbaum (10.1016/j.ajhg.2014.12.014_bib2) 2013; 161A Wu (10.1016/j.ajhg.2014.12.014_bib12) 2013; 152 Sheng (10.1016/j.ajhg.2014.12.014_bib14) 2014; 5 Hall (10.1016/j.ajhg.2014.12.014_bib8) 1999; 34 Funabiki (10.1016/j.ajhg.2014.12.014_bib9) 2014; 40 Bijlmakers (10.1016/j.ajhg.2014.12.014_bib16) 2011; 20 Smyth (10.1016/j.ajhg.2014.12.014_bib18) 2006; 38 Strange (10.1016/j.ajhg.2014.12.014_bib13) 2010; 42 Sato (10.1016/j.ajhg.2014.12.014_bib23) 2000; 13 Dou (10.1016/j.ajhg.2014.12.014_bib15) 2014; 43 Concannon (10.1016/j.ajhg.2014.12.014_bib19) 2008; 57 Nejentsev (10.1016/j.ajhg.2014.12.014_bib20) 2009; 324 Oda (10.1016/j.ajhg.2014.12.014_bib22) 2014; 95 Singleton (10.1016/j.ajhg.2014.12.014_bib1) 1973; 1 Lu (10.1016/j.ajhg.2014.12.014_bib3) 2014; 55 Tanner (10.1016/j.ajhg.2014.12.014_bib10) 2001; 8 Cen (10.1016/j.ajhg.2014.12.014_bib17) 2013; 36 Yeo (10.1016/j.ajhg.2014.12.014_bib6) 2004; 11 Rice (10.1016/j.ajhg.2014.12.014_bib21) 2014; 46 15285897 - J Comput Biol. 2004;11(2-3):377-94 19451168 - Bioinformatics. 2009 Jul 15;25(14):1754-60 23322711 - Am J Med Genet A. 2013 Feb;161A(2):360-70 18647951 - Diabetes. 2008 Oct;57(10):2858-61 11070172 - Immunity. 2000 Oct;13(4):539-48 20644199 - Genome Res. 2010 Sep;20(9):1297-303 24530055 - Immunity. 2014 Feb 20;40(2):199-212 4272099 - Pediatr Radiol. 1973 Mar;1(1):2-7 23706667 - Immunity. 2013 May 23;38(5):855-69 21571784 - Hum Mol Genet. 2011 Aug 15;20(16):3129-37 19264985 - Science. 2009 Apr 17;324(5925):387-9 25158182 - Connect Tissue Res. 2014 Aug;55 Suppl 1:57-61 16699517 - Nat Genet. 2006 Jun;38(6):617-9 25006012 - Nat Commun. 2014;5:4331 24960033 - Immunol Invest. 2014;43(7):627-37 20953190 - Nat Genet. 2010 Nov;42(11):985-90 24686847 - Nat Genet. 2014 May;46(5):503-9 10594814 - Mol Microbiol. 1999 Dec;34(5):867-77 16337753 - Gene. 2006 Feb 15;367:17-37 23108955 - Inflammation. 2013 Apr;36(2):444-8 11545728 - Mol Cell. 2001 Aug;8(2):251-62 23273991 - Cell. 2013 Jan 17;152(1-2):276-89 24995871 - Am J Hum Genet. 2014 Jul 3;95(1):121-5
References_xml	– volume: 324 start-page: 387 year: 2009 end-page: 389 ident: bib20 article-title: Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes publication-title: Science – volume: 34 start-page: 867 year: 1999 end-page: 877 ident: bib8 article-title: Helicase motifs: the engine that powers DNA unwinding publication-title: Mol. Microbiol. – volume: 8 start-page: 251 year: 2001 end-page: 262 ident: bib10 article-title: DExD/H box RNA helicases: from generic motors to specific dissociation functions publication-title: Mol. Cell – volume: 55 start-page: 57 year: 2014 end-page: 61 ident: bib3 article-title: Establishment of Singleton-Merten syndrome pulp cells: evidence of mineralization dysregulation publication-title: Connect. Tissue Res. – volume: 46 start-page: 503 year: 2014 end-page: 509 ident: bib21 article-title: Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling publication-title: Nat. Genet. – volume: 20 start-page: 1297 year: 2010 end-page: 1303 ident: bib5 article-title: The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data publication-title: Genome Res. – volume: 95 start-page: 121 year: 2014 end-page: 125 ident: bib22 article-title: Aicardi-Goutières syndrome is caused by IFIH1 mutations publication-title: Am. J. Hum. Genet. – volume: 13 start-page: 539 year: 2000 end-page: 548 ident: bib23 article-title: Distinct and essential roles of transcription factors IRF-3 and IRF-7 in response to viruses for IFN-alpha/beta gene induction publication-title: Immunity – volume: 367 start-page: 17 year: 2006 end-page: 37 ident: bib11 article-title: The DEAD-box protein family of RNA helicases publication-title: Gene – volume: 152 start-page: 276 year: 2013 end-page: 289 ident: bib12 article-title: Structural basis for dsRNA recognition, filament formation, and antiviral signal activation by MDA5 publication-title: Cell – volume: 38 start-page: 617 year: 2006 end-page: 619 ident: bib18 article-title: A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region publication-title: Nat. Genet. – volume: 42 start-page: 985 year: 2010 end-page: 990 ident: bib13 article-title: A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1 publication-title: Nat. Genet. – volume: 11 start-page: 377 year: 2004 end-page: 394 ident: bib6 article-title: Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals publication-title: J. Comput. Biol. – volume: 5 start-page: 4331 year: 2014 ident: bib14 article-title: Sequencing-based approach identified three new susceptibility loci for psoriasis publication-title: Nat. Commun. – volume: 40 start-page: 199 year: 2014 end-page: 212 ident: bib9 article-title: Autoimmune disorders associated with gain of function of the intracellular sensor MDA5 publication-title: Immunity – volume: 20 start-page: 3129 year: 2011 end-page: 3137 ident: bib16 article-title: Functional analysis of the RNF114 psoriasis susceptibility gene implicates innate immune responses to double-stranded RNA in disease pathogenesis publication-title: Hum. Mol. Genet. – volume: 36 start-page: 444 year: 2013 end-page: 448 ident: bib17 article-title: Association study of IFIH1 rs1990760 polymorphism with systemic lupus erythematosus in a Chinese population publication-title: Inflammation – volume: 1 start-page: 2 year: 1973 end-page: 7 ident: bib1 article-title: An unusual syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition publication-title: Pediatr. Radiol. – volume: 43 start-page: 627 year: 2014 end-page: 637 ident: bib15 article-title: Association of innate immune IFIH1 gene polymorphisms with dilated cardiomyopathy in a Chinese population publication-title: Immunol. Invest. – volume: 57 start-page: 2858 year: 2008 end-page: 2861 ident: bib19 article-title: A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3 publication-title: Diabetes – volume: 161A start-page: 360 year: 2013 end-page: 370 ident: bib2 article-title: Singleton-Merten syndrome: an autosomal dominant disorder with variable expression publication-title: Am. J. Med. Genet. A. – volume: 38 start-page: 855 year: 2013 end-page: 869 ident: bib7 article-title: Cytosolic sensing of viruses publication-title: Immunity – volume: 25 start-page: 1754 year: 2009 end-page: 1760 ident: bib4 article-title: Fast and accurate short read alignment with Burrows-Wheeler transform publication-title: Bioinformatics – volume: 42 start-page: 985 year: 2010 ident: 10.1016/j.ajhg.2014.12.014_bib13 article-title: A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1 publication-title: Nat. Genet. doi: 10.1038/ng.694 – volume: 324 start-page: 387 year: 2009 ident: 10.1016/j.ajhg.2014.12.014_bib20 article-title: Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes publication-title: Science doi: 10.1126/science.1167728 – volume: 11 start-page: 377 year: 2004 ident: 10.1016/j.ajhg.2014.12.014_bib6 article-title: Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals publication-title: J. Comput. Biol. doi: 10.1089/1066527041410418 – volume: 38 start-page: 855 year: 2013 ident: 10.1016/j.ajhg.2014.12.014_bib7 article-title: Cytosolic sensing of viruses publication-title: Immunity doi: 10.1016/j.immuni.2013.05.007 – volume: 25 start-page: 1754 year: 2009 ident: 10.1016/j.ajhg.2014.12.014_bib4 article-title: Fast and accurate short read alignment with Burrows-Wheeler transform publication-title: Bioinformatics doi: 10.1093/bioinformatics/btp324 – volume: 8 start-page: 251 year: 2001 ident: 10.1016/j.ajhg.2014.12.014_bib10 article-title: DExD/H box RNA helicases: from generic motors to specific dissociation functions publication-title: Mol. Cell doi: 10.1016/S1097-2765(01)00329-X – volume: 152 start-page: 276 year: 2013 ident: 10.1016/j.ajhg.2014.12.014_bib12 article-title: Structural basis for dsRNA recognition, filament formation, and antiviral signal activation by MDA5 publication-title: Cell doi: 10.1016/j.cell.2012.11.048 – volume: 13 start-page: 539 year: 2000 ident: 10.1016/j.ajhg.2014.12.014_bib23 article-title: Distinct and essential roles of transcription factors IRF-3 and IRF-7 in response to viruses for IFN-alpha/beta gene induction publication-title: Immunity doi: 10.1016/S1074-7613(00)00053-4 – volume: 34 start-page: 867 year: 1999 ident: 10.1016/j.ajhg.2014.12.014_bib8 article-title: Helicase motifs: the engine that powers DNA unwinding publication-title: Mol. Microbiol. doi: 10.1046/j.1365-2958.1999.01659.x – volume: 95 start-page: 121 year: 2014 ident: 10.1016/j.ajhg.2014.12.014_bib22 article-title: Aicardi-Goutières syndrome is caused by IFIH1 mutations publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2014.06.007 – volume: 161A start-page: 360 year: 2013 ident: 10.1016/j.ajhg.2014.12.014_bib2 article-title: Singleton-Merten syndrome: an autosomal dominant disorder with variable expression publication-title: Am. J. Med. Genet. A. doi: 10.1002/ajmg.a.35732 – volume: 367 start-page: 17 year: 2006 ident: 10.1016/j.ajhg.2014.12.014_bib11 article-title: The DEAD-box protein family of RNA helicases publication-title: Gene doi: 10.1016/j.gene.2005.10.019 – volume: 57 start-page: 2858 year: 2008 ident: 10.1016/j.ajhg.2014.12.014_bib19 article-title: A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3 publication-title: Diabetes doi: 10.2337/db08-0753 – volume: 46 start-page: 503 year: 2014 ident: 10.1016/j.ajhg.2014.12.014_bib21 article-title: Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling publication-title: Nat. Genet. doi: 10.1038/ng.2933 – volume: 38 start-page: 617 year: 2006 ident: 10.1016/j.ajhg.2014.12.014_bib18 article-title: A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region publication-title: Nat. Genet. doi: 10.1038/ng1800 – volume: 1 start-page: 2 year: 1973 ident: 10.1016/j.ajhg.2014.12.014_bib1 article-title: An unusual syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition publication-title: Pediatr. Radiol. doi: 10.1007/BF00972817 – volume: 43 start-page: 627 year: 2014 ident: 10.1016/j.ajhg.2014.12.014_bib15 article-title: Association of innate immune IFIH1 gene polymorphisms with dilated cardiomyopathy in a Chinese population publication-title: Immunol. Invest. doi: 10.3109/08820139.2014.909455 – volume: 55 start-page: 57 issue: 1 year: 2014 ident: 10.1016/j.ajhg.2014.12.014_bib3 article-title: Establishment of Singleton-Merten syndrome pulp cells: evidence of mineralization dysregulation publication-title: Connect. Tissue Res. doi: 10.3109/03008207.2014.923880 – volume: 20 start-page: 3129 year: 2011 ident: 10.1016/j.ajhg.2014.12.014_bib16 article-title: Functional analysis of the RNF114 psoriasis susceptibility gene implicates innate immune responses to double-stranded RNA in disease pathogenesis publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/ddr215 – volume: 40 start-page: 199 year: 2014 ident: 10.1016/j.ajhg.2014.12.014_bib9 article-title: Autoimmune disorders associated with gain of function of the intracellular sensor MDA5 publication-title: Immunity doi: 10.1016/j.immuni.2013.12.014 – volume: 5 start-page: 4331 year: 2014 ident: 10.1016/j.ajhg.2014.12.014_bib14 article-title: Sequencing-based approach identified three new susceptibility loci for psoriasis publication-title: Nat. Commun. doi: 10.1038/ncomms5331 – volume: 20 start-page: 1297 year: 2010 ident: 10.1016/j.ajhg.2014.12.014_bib5 article-title: The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data publication-title: Genome Res. doi: 10.1101/gr.107524.110 – volume: 36 start-page: 444 year: 2013 ident: 10.1016/j.ajhg.2014.12.014_bib17 article-title: Association study of IFIH1 rs1990760 polymorphism with systemic lupus erythematosus in a Chinese population publication-title: Inflammation doi: 10.1007/s10753-012-9564-0 – reference: 24530055 - Immunity. 2014 Feb 20;40(2):199-212 – reference: 24995871 - Am J Hum Genet. 2014 Jul 3;95(1):121-5 – reference: 20953190 - Nat Genet. 2010 Nov;42(11):985-90 – reference: 23706667 - Immunity. 2013 May 23;38(5):855-69 – reference: 11070172 - Immunity. 2000 Oct;13(4):539-48 – reference: 4272099 - Pediatr Radiol. 1973 Mar;1(1):2-7 – reference: 23322711 - Am J Med Genet A. 2013 Feb;161A(2):360-70 – reference: 11545728 - Mol Cell. 2001 Aug;8(2):251-62 – reference: 16699517 - Nat Genet. 2006 Jun;38(6):617-9 – reference: 23108955 - Inflammation. 2013 Apr;36(2):444-8 – reference: 23273991 - Cell. 2013 Jan 17;152(1-2):276-89 – reference: 25158182 - Connect Tissue Res. 2014 Aug;55 Suppl 1:57-61 – reference: 20644199 - Genome Res. 2010 Sep;20(9):1297-303 – reference: 19264985 - Science. 2009 Apr 17;324(5925):387-9 – reference: 19451168 - Bioinformatics. 2009 Jul 15;25(14):1754-60 – reference: 21571784 - Hum Mol Genet. 2011 Aug 15;20(16):3129-37 – reference: 24686847 - Nat Genet. 2014 May;46(5):503-9 – reference: 25006012 - Nat Commun. 2014;5:4331 – reference: 24960033 - Immunol Invest. 2014;43(7):627-37 – reference: 15285897 - J Comput Biol. 2004;11(2-3):377-94 – reference: 16337753 - Gene. 2006 Feb 15;367:17-37 – reference: 18647951 - Diabetes. 2008 Oct;57(10):2858-61 – reference: 10594814 - Mol Microbiol. 1999 Dec;34(5):867-77
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Snippet	Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characterized by early and extreme aortic and valvular calcification,...
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SubjectTerms	Amino Acid Sequence Aortic Diseases - genetics Arteries - pathology Autoimmune diseases Base Sequence Calcinosis - genetics Calcinosis - pathology DEAD-box RNA Helicases - chemistry DEAD-box RNA Helicases - genetics DEAD-box RNA Helicases - metabolism Dental Enamel Hypoplasia - genetics Exome - genetics Genes, Dominant - genetics Genetic disorders Genomics Humans Immunohistochemistry Interferon Interferon-beta - metabolism Interferon-Induced Helicase, IFIH1 Metacarpus - abnormalities Models, Molecular Molecular Sequence Data Muscular Diseases - genetics Mutation Mutation, Missense - genetics Odontodysplasia - genetics Osteoporosis - genetics Pedigree Phenotype Sequence Analysis, DNA Tooth Abnormalities - genetics Tooth Abnormalities - pathology Vascular Calcification - genetics
Title	A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome
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