De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
Han Brunner and colleagues report the identification of de novo nonsense mutations in ASXL1 in individuals with Bohring-Opitz syndrome, which is characterized by intellectual disability, distinctive facial features and multiple congenital malformations. Bohring-Opitz syndrome is characterized by sev...
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| Published in | Nature genetics Vol. 43; no. 8; pp. 729 - 731 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York
Nature Publishing Group US
01.08.2011
Nature Publishing Group |
| Subjects | |
| Online Access | Get full text |
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| Abstract | Han Brunner and colleagues report the identification of
de novo
nonsense mutations in
ASXL1
in individuals with Bohring-Opitz syndrome, which is characterized by intellectual disability, distinctive facial features and multiple congenital malformations.
Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous
de novo
nonsense mutations in
ASXL1
, which is required for maintenance of both activation and silencing of Hox genes. In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had
de novo ASXL1
mutations, suggesting that the syndrome is genetically heterogeneous. |
|---|---|
| AbstractList | Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes. In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous. Han Brunner and colleagues report the identification of de novo nonsense mutations in ASXL1 in individuals with Bohring-Opitz syndrome, which is characterized by intellectual disability, distinctive facial features and multiple congenital malformations. Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1 , which is required for maintenance of both activation and silencing of Hox genes. In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous. Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes. In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous.Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes. In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous. Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes. In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous. [PUBLICATION ABSTRACT] |
| Audience | Academic |
| Author | Bartholdi, Deborah Rodríguez-Santiago, Benjamín Peippo, Maarit van Lier, Bart Newbury-Ecob, Ruth Janssen, Irene Goodship, Judith Hoischen, Alexander Wieczorek, Dagmar Vissers, Lisenka E L M Rauch, Anita Cobben, Jan M Veltman, Joris A Brunner, Han G Gilissen, Christian Kjaergaard, Susanne de Vries, Petra Smithson, Sarah F Gillessen-Kaesbach, Gabriele de Vries, Bert B B A van Bon, Bregje W M Hastings, Rob McGowan, Ruth |
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| Copyright | Springer Nature America, Inc. 2011 2015 INIST-CNRS COPYRIGHT 2011 Nature Publishing Group Copyright Nature Publishing Group Aug 2011 |
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| DOI | 10.1038/ng.868 |
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| References | BisgaardAMEur. J. Med. Genet.20075024325510.1016/j.ejmg.2007.03.004 BenchAJOncogene200019390239131:CAS:528:DC%2BD3cXmtFygsLw%3D10.1038/sj.onc.1203728 BoultwoodJLeukemia201024106210651:CAS:528:DC%2BC3cXlvVOitL0%3D10.1038/leu.2010.20 HoischenANat. Genet.2010424834851:CAS:528:DC%2BC3cXlsVyiu7o%3D10.1038/ng.581 OberklaidFDanksDMAm. J. Dis. Child.1975129134813491:STN:280:DyaE28%2FlvFWltw%3D%3D10.1001/archpedi.1975.02120480062016 Gelsi-BoyerVBr. J. Haematol.20101513653751:CAS:528:DC%2BC3cXhs1aisL%2FM10.1111/j.1365-2141.2010.08381.x HastingsRCobbenJMGillessen-KaesbachGEur. J. Hum. Genet.2011195135191:CAS:528:DC%2BC3MXlt1Cnu7o%3D10.1038/ejhg.2010.234 FisherCLDev. Biol.20103379151:CAS:528:DC%2BD1MXhsFShurzK10.1016/j.ydbio.2009.10.004 Kleefstra, T., Nillesen, W.M. & Yntema, H.G. GeneReviews (eds Pagon, R.A., Bird, T.D., Dolan, C.R. & Stephens, K.) (University of Washington, Seattle, Washington, USA, 1993–2010 ). BohringAOudesluijsGGGrangeDKZampinoGThierryPAm. J. Med. Genet. A.20061401257126310.1002/ajmg.a.31265 NgSBNat. Genet.2010427907931:CAS:528:DC%2BC3cXhtVaisL7K10.1038/ng.646 GilissenCAm. J. Hum. Genet.2010874184231:CAS:528:DC%2BC3cXhtFamsbfI10.1016/j.ajhg.2010.08.004 Rodríguez-SantiagoBAm. J. Hum. Genet.20108712913810.1016/j.ajhg.2010.06.002 KanameTAm. J. Hum. Genet.2007818358411:CAS:528:DC%2BD2sXhtFSktrjJ10.1086/522014 F Oberklaid (BFng868_CR1) 1975; 129 T Kaname (BFng868_CR7) 2007; 81 CL Fisher (BFng868_CR9) 2010; 337 J Boultwood (BFng868_CR12) 2010; 24 R Hastings (BFng868_CR2) 2011; 19 A Hoischen (BFng868_CR6) 2010; 42 B Rodríguez-Santiago (BFng868_CR14) 2010; 87 C Gilissen (BFng868_CR5) 2010; 87 BFng868_CR10 AM Bisgaard (BFng868_CR8) 2007; 50 V Gelsi-Boyer (BFng868_CR11) 2010; 151 SB Ng (BFng868_CR4) 2010; 42 AJ Bench (BFng868_CR13) 2000; 19 A Bohring (BFng868_CR3) 2006; 140 16691589 - Am J Med Genet A. 2006 Jun 15;140(12):1257-63 19833123 - Dev Biol. 2010 Jan 1;337(1):9-15 17531565 - Eur J Med Genet. 2007 Jul-Aug;50(4):243-55 20598279 - Am J Hum Genet. 2010 Jul 9;87(1):129-38 20436468 - Nat Genet. 2010 Jun;42(6):483-5 20817137 - Am J Hum Genet. 2010 Sep 10;87(3):418-23 20182461 - Leukemia. 2010 May;24(5):1062-5 17847009 - Am J Hum Genet. 2007 Oct;81(4):835-41 20880116 - Br J Haematol. 2010 Nov;151(4):365-75 21368916 - Eur J Hum Genet. 2011 May;19(5):513-9 20711175 - Nat Genet. 2010 Sep;42(9):790-3 10952764 - Oncogene. 2000 Aug 10;19(34):3902-13 1190170 - Am J Dis Child. 1975 Nov;129(11):1348-9 |
| References_xml | – reference: HastingsRCobbenJMGillessen-KaesbachGEur. J. Hum. Genet.2011195135191:CAS:528:DC%2BC3MXlt1Cnu7o%3D10.1038/ejhg.2010.234 – reference: BisgaardAMEur. J. Med. Genet.20075024325510.1016/j.ejmg.2007.03.004 – reference: Gelsi-BoyerVBr. J. Haematol.20101513653751:CAS:528:DC%2BC3cXhs1aisL%2FM10.1111/j.1365-2141.2010.08381.x – reference: Rodríguez-SantiagoBAm. J. Hum. Genet.20108712913810.1016/j.ajhg.2010.06.002 – reference: HoischenANat. Genet.2010424834851:CAS:528:DC%2BC3cXlsVyiu7o%3D10.1038/ng.581 – reference: Kleefstra, T., Nillesen, W.M. & Yntema, H.G. GeneReviews (eds Pagon, R.A., Bird, T.D., Dolan, C.R. & Stephens, K.) (University of Washington, Seattle, Washington, USA, 1993–2010 ). – reference: BohringAOudesluijsGGGrangeDKZampinoGThierryPAm. J. Med. Genet. A.20061401257126310.1002/ajmg.a.31265 – reference: BoultwoodJLeukemia201024106210651:CAS:528:DC%2BC3cXlvVOitL0%3D10.1038/leu.2010.20 – reference: BenchAJOncogene200019390239131:CAS:528:DC%2BD3cXmtFygsLw%3D10.1038/sj.onc.1203728 – reference: FisherCLDev. Biol.20103379151:CAS:528:DC%2BD1MXhsFShurzK10.1016/j.ydbio.2009.10.004 – reference: GilissenCAm. J. Hum. Genet.2010874184231:CAS:528:DC%2BC3cXhtFamsbfI10.1016/j.ajhg.2010.08.004 – reference: KanameTAm. J. Hum. Genet.2007818358411:CAS:528:DC%2BD2sXhtFSktrjJ10.1086/522014 – reference: NgSBNat. Genet.2010427907931:CAS:528:DC%2BC3cXhtVaisL7K10.1038/ng.646 – reference: OberklaidFDanksDMAm. J. Dis. Child.1975129134813491:STN:280:DyaE28%2FlvFWltw%3D%3D10.1001/archpedi.1975.02120480062016 – volume: 140 start-page: 1257 year: 2006 ident: BFng868_CR3 publication-title: Am. J. Med. Genet. A. doi: 10.1002/ajmg.a.31265 – volume: 19 start-page: 513 year: 2011 ident: BFng868_CR2 publication-title: Eur. J. Hum. Genet. doi: 10.1038/ejhg.2010.234 – volume: 129 start-page: 1348 year: 1975 ident: BFng868_CR1 publication-title: Am. J. Dis. Child. doi: 10.1001/archpedi.1975.02120480062016 – volume: 87 start-page: 129 year: 2010 ident: BFng868_CR14 publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2010.06.002 – volume: 42 start-page: 790 year: 2010 ident: BFng868_CR4 publication-title: Nat. Genet. doi: 10.1038/ng.646 – volume: 50 start-page: 243 year: 2007 ident: BFng868_CR8 publication-title: Eur. J. Med. Genet. doi: 10.1016/j.ejmg.2007.03.004 – volume: 151 start-page: 365 year: 2010 ident: BFng868_CR11 publication-title: Br. J. Haematol. doi: 10.1111/j.1365-2141.2010.08381.x – volume: 42 start-page: 483 year: 2010 ident: BFng868_CR6 publication-title: Nat. Genet. doi: 10.1038/ng.581 – volume: 81 start-page: 835 year: 2007 ident: BFng868_CR7 publication-title: Am. J. Hum. Genet. doi: 10.1086/522014 – ident: BFng868_CR10 – volume: 87 start-page: 418 year: 2010 ident: BFng868_CR5 publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2010.08.004 – volume: 24 start-page: 1062 year: 2010 ident: BFng868_CR12 publication-title: Leukemia doi: 10.1038/leu.2010.20 – volume: 19 start-page: 3902 year: 2000 ident: BFng868_CR13 publication-title: Oncogene doi: 10.1038/sj.onc.1203728 – volume: 337 start-page: 9 year: 2010 ident: BFng868_CR9 publication-title: Dev. Biol. doi: 10.1016/j.ydbio.2009.10.004 – reference: 10952764 - Oncogene. 2000 Aug 10;19(34):3902-13 – reference: 20182461 - Leukemia. 2010 May;24(5):1062-5 – reference: 20880116 - Br J Haematol. 2010 Nov;151(4):365-75 – reference: 21368916 - Eur J Hum Genet. 2011 May;19(5):513-9 – reference: 1190170 - Am J Dis Child. 1975 Nov;129(11):1348-9 – reference: 17531565 - Eur J Med Genet. 2007 Jul-Aug;50(4):243-55 – reference: 16691589 - Am J Med Genet A. 2006 Jun 15;140(12):1257-63 – reference: 20711175 - Nat Genet. 2010 Sep;42(9):790-3 – reference: 19833123 - Dev Biol. 2010 Jan 1;337(1):9-15 – reference: 20817137 - Am J Hum Genet. 2010 Sep 10;87(3):418-23 – reference: 20598279 - Am J Hum Genet. 2010 Jul 9;87(1):129-38 – reference: 20436468 - Nat Genet. 2010 Jun;42(6):483-5 – reference: 17847009 - Am J Hum Genet. 2007 Oct;81(4):835-41 |
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| Snippet | Han Brunner and colleagues report the identification of
de novo
nonsense mutations in
ASXL1
in individuals with Bohring-Opitz syndrome, which is characterized... Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the... |
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| SubjectTerms | 631/208/2489/144 Agriculture Animal Genetics and Genomics Biological and medical sciences Biomedical and Life Sciences Biomedicine brief-communication Cancer Cancer Research Codon, Nonsense - genetics Complex syndromes Congenital defects Craniosynostoses - etiology Craniosynostoses - pathology Diagnosis Experiments Face - abnormalities Face - pathology Fundamental and applied biological sciences. Psychology Gaming machines Gene Function Genes Genetic aspects Genetics of eukaryotes. Biological and molecular evolution Genotype & phenotype Human Genetics Humans Intellectual Disability - etiology Intellectual Disability - genetics Intellectual Disability - pathology Medical genetics Medical research Medical sciences Mutation Opitz syndrome Physiological aspects Polymorphism, Single Nucleotide - genetics Repressor Proteins - genetics Suppression, Genetic |
| Title | De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome |
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