Autosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2
Abstract Introduction: Weill-Marchesani syndrome (WMS) is a hereditary connective tissue disorder with substantial heterogeneity in clinical features and genetic etiology, so it is essential to define the full mutation spectrum for earlier diagnosis. In this study, we report Weill-Marchesani-like sy...
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| Published in | Ophthalmic research Vol. 67; no. 1; pp. 340 - 347 |
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| Main Authors | , , , , , , |
| Format | Journal Article |
| Language | English |
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Basel, Switzerland
S. Karger AG
21.05.2024
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| Online Access | Get full text |
| ISSN | 0030-3747 1423-0259 1423-0259 |
| DOI | 10.1159/000538844 |
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| Abstract | Abstract
Introduction: Weill-Marchesani syndrome (WMS) is a hereditary connective tissue disorder with substantial heterogeneity in clinical features and genetic etiology, so it is essential to define the full mutation spectrum for earlier diagnosis. In this study, we report Weill-Marchesani-like syndrome (WMS-like) change to autosomal dominance inheritance caused by novel haplotypic mutations in latent transforming growth factor beta-binding protein 2 (LTBP2). Methods: Twenty-five members from a 4-generation Chinese family were recruited from Guangzhou, of whom nine were diagnosed with WMS-like disease, nine were healthy, and seven were of “uncertain” clinical status because of their young age. All members received detailed physical and ocular examinations. Whole-exome sequencing, Sanger sequencing, and real-time PCR were used to identify and verify the causative mutations in family members. Results: Genetic sequencing revealed novel haplotypic mutations on the same LTBP2 chromosome associated with WMS-like, c. 2657C>A/p.T886K in exon 16 and deletion of exons 25–36. Real-time PCR and Sanger sequencing verified both mutations in patients with clinically diagnosed WMS-like, and in one “uncertain” child. In these patients, the haplotypic mutations led to ectopia lentis, short stature, and obesity. Conclusion: Our study revealed that WMS-like may be associated with haplotypic LTBP2 mutations with autosomal dominant inheritance. |
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| AbstractList | Weill-Marchesani syndrome (WMS) is a hereditary connective tissue disorder with substantial heterogeneity in clinical features and genetic etiology, so it is essential to define the full mutation spectrum for earlier diagnosis. In this study, we report Weill-Marchesani-like syndrome (WMS-like) change to autosomal dominance inheritance caused by novel haplotypic mutations in latent transforming growth factor beta-binding protein 2 (LTBP2).INTRODUCTIONWeill-Marchesani syndrome (WMS) is a hereditary connective tissue disorder with substantial heterogeneity in clinical features and genetic etiology, so it is essential to define the full mutation spectrum for earlier diagnosis. In this study, we report Weill-Marchesani-like syndrome (WMS-like) change to autosomal dominance inheritance caused by novel haplotypic mutations in latent transforming growth factor beta-binding protein 2 (LTBP2).Twenty-five members from a 4-generation Chinese family were recruited from Guangzhou, of whom nine were diagnosed with WMS-like disease, nine were healthy, and seven were of "uncertain" clinical status because of their young age. All members received detailed physical and ocular examinations. Whole-exome sequencing, Sanger sequencing, and real-time PCR were used to identify and verify the causative mutations in family members.METHODSTwenty-five members from a 4-generation Chinese family were recruited from Guangzhou, of whom nine were diagnosed with WMS-like disease, nine were healthy, and seven were of "uncertain" clinical status because of their young age. All members received detailed physical and ocular examinations. Whole-exome sequencing, Sanger sequencing, and real-time PCR were used to identify and verify the causative mutations in family members.Genetic sequencing revealed novel haplotypic mutations on the same LTBP2 chromosome associated with WMS-like, c. 2657C>A/p.T886K in exon 16 and deletion of exons 25-36. Real-time PCR and Sanger sequencing verified both mutations in patients with clinically diagnosed WMS-like, and in one "uncertain" child. In these patients, the haplotypic mutations led to ectopia lentis, short stature, and obesity.RESULTSGenetic sequencing revealed novel haplotypic mutations on the same LTBP2 chromosome associated with WMS-like, c. 2657C>A/p.T886K in exon 16 and deletion of exons 25-36. Real-time PCR and Sanger sequencing verified both mutations in patients with clinically diagnosed WMS-like, and in one "uncertain" child. In these patients, the haplotypic mutations led to ectopia lentis, short stature, and obesity.Our study revealed that WMS-like may be associated with haplotypic LTBP2 mutations with autosomal dominant inheritance.CONCLUSIONOur study revealed that WMS-like may be associated with haplotypic LTBP2 mutations with autosomal dominant inheritance. Introduction: Weill-Marchesani syndrome (WMS) is a hereditary connective tissue disorder with substantial heterogeneity in clinical features and genetic etiology, so it is essential to define the full mutation spectrum for earlier diagnosis. In this study, we report Weill-Marchesani-like syndrome (WMS-like) change to autosomal dominance inheritance caused by novel haplotypic mutations in latent transforming growth factor beta-binding protein 2 (LTBP2). Methods: Twenty-five members from a 4-generation Chinese family were recruited from Guangzhou, of whom nine were diagnosed with WMS-like disease, nine were healthy, and seven were of "uncertain" clinical status because of their young age. All members received detailed physical and ocular examinations. Whole-exome sequencing, Sanger sequencing, and real-time PCR were used to identify and verify the causative mutations in family members. Results: Genetic sequencing revealed novel haplotypic mutations on the same LTBP2 chromosome associated with WMS-like, c. 2657C>A/p.T886K in exon 16 and deletion of exons 25-36. Real-time PCR and Sanger sequencing verified both mutations in patients with clinically diagnosed WMS-like, and in one "uncertain" child. In these patients, the haplotypic mutations led to ectopia lentis, short stature, and obesity. Conclusion: Our study revealed that WMS-like may be associated with haplotypic LTBP2 mutations with autosomal dominant inheritance. Keywords: Latent transforming growth factor beta-binding protein 2, Weill-Marchesani syndrome, Ectopia lentis, Haplotype, Autosomal dominant Abstract Introduction: Weill-Marchesani syndrome (WMS) is a hereditary connective tissue disorder with substantial heterogeneity in clinical features and genetic etiology, so it is essential to define the full mutation spectrum for earlier diagnosis. In this study, we report Weill-Marchesani-like syndrome (WMS-like) change to autosomal dominance inheritance caused by novel haplotypic mutations in latent transforming growth factor beta-binding protein 2 (LTBP2). Methods: Twenty-five members from a 4-generation Chinese family were recruited from Guangzhou, of whom nine were diagnosed with WMS-like disease, nine were healthy, and seven were of “uncertain” clinical status because of their young age. All members received detailed physical and ocular examinations. Whole-exome sequencing, Sanger sequencing, and real-time PCR were used to identify and verify the causative mutations in family members. Results: Genetic sequencing revealed novel haplotypic mutations on the same LTBP2 chromosome associated with WMS-like, c. 2657C>A/p.T886K in exon 16 and deletion of exons 25–36. Real-time PCR and Sanger sequencing verified both mutations in patients with clinically diagnosed WMS-like, and in one “uncertain” child. In these patients, the haplotypic mutations led to ectopia lentis, short stature, and obesity. Conclusion: Our study revealed that WMS-like may be associated with haplotypic LTBP2 mutations with autosomal dominant inheritance. Weill-Marchesani syndrome (WMS) is a hereditary connective tissue disorder with substantial heterogeneity in clinical features and genetic etiology, so it is essential to define the full mutation spectrum for earlier diagnosis. In this study, we report Weill-Marchesani-like syndrome (WMS-like) change to autosomal dominance inheritance caused by novel haplotypic mutations in latent transforming growth factor beta-binding protein 2 (LTBP2). Twenty-five members from a 4-generation Chinese family were recruited from Guangzhou, of whom nine were diagnosed with WMS-like disease, nine were healthy, and seven were of "uncertain" clinical status because of their young age. All members received detailed physical and ocular examinations. Whole exome sequencing, Sanger sequencing, and real-time PCR were used to identify and verify the causative mutations in family members. Genetic sequencing revealed novel haplotypic mutations on the same LTBP2 chromosome associated with WMS-like, c. 2657C>A/p.T886K in exon 16 and deletion of exons 25-36. Real-time PCR and Sanger sequencing verified both mutations in patients with clinically diagnosed WMS-like, and in one "uncertain" child. In these patients, the haplotypic mutations led to ectopia lentis, short stature and obesity. Our study revealed that WMS-like may be associated with haplotypic LTBP2 mutations with autosomal dominant inheritance. Introduction: Weill-Marchesani syndrome (WMS) is a hereditary connective tissue disorder with substantial heterogeneity in clinical features and genetic etiology, so it is essential to define the full mutation spectrum for earlier diagnosis. In this study, we report Weill-Marchesani-like syndrome (WMS-like) change to autosomal dominance inheritance caused by novel haplotypic mutations in latent transforming growth factor beta-binding protein 2 (LTBP2). Methods: Twenty-five members from a 4-generation Chinese family were recruited from Guangzhou, of whom nine were diagnosed with WMS-like disease, nine were healthy, and seven were of “uncertain” clinical status because of their young age. All members received detailed physical and ocular examinations. Whole exome sequencing, Sanger sequencing, and real-time PCR were used to identify and verify the causative mutations in family members. Results: Genetic sequencing revealed novel haplotypic mutations on the same LTBP2 chromosome associated with WMS-like, c. 2657C>A/p.T886K in exon 16 and deletion of exons 25-36. Real-time PCR and Sanger sequencing verified both mutations in patients with clinically diagnosed WMS-like, and in one “uncertain” child. In these patients, the haplotypic mutations led to ectopia lentis, short stature and obesity. Conclusion: Our study revealed that WMS-like may be associated with haplotypic LTBP2 mutations with autosomal dominant inheritance. |
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| Author | Jin, Jiayi Wan, Jifeng Zhong, Liuxueying Zheng, Yongxin Jin, Guangming Zheng, Danying Chen, Juan |
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| Keywords | Autosomal dominant Latent transforming growth factor beta-binding protein 2 Weill-Marchesani syndrome Ectopia lentis Haplotype |
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| References | Yang GY, Huang X, Chen BJ, Xu ZP. Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance. Chin Med J. 2021;134(11):1359–61. Fujikawa Y, Yoshida H, Inoue T, Ohbayashi T, Noda K, von Melchner H, . Latent TGF-β binding protein 2 and 4 have essential overlapping functions in microfibril development. Sci Rep. 2017;7:43714. Inoue T, Ohbayashi T, Fujikawa Y, Yoshida H, Akama TO, Noda K, . Latent TGF-β binding protein-2 is essential for the development of ciliary zonule microfibrils. Hum Mol Genet. 2014;23(21):5672–82. Oklü R, Hesketh R. The latent transforming growth factor beta binding protein (LTBP) family. Biochem J. 2000;352 Pt 3(Pt 3):601–10. Faivre L, Dollfus H, Lyonnet S, Alembik Y, Mégarbané A, Samples J, . Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet. 2003;123a(2):204–7. Morén A, Olofsson A, Stenman G, Sahlin P, Kanzaki T, Claesson-Welsh L, . Identification and characterization of LTBP-2, a novel latent transforming growth factor-beta-binding protein. J Biol Chem. 1994;269(51):32469–78. Xu M, Li K, He W. Compound heterozygous mutations in the LTBP2 gene associated with microspherophakia in a Chinese patient: a case report and literature review. BMC Med Genomics. 2021;14(1):227. Shah MH, Bhat V, Shetty JS, Kumar A. Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. Mol Vis. 2014;20:790–6. Désir J, Sznajer Y, Depasse F, Roulez F, Schrooyen M, Meire F, . LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. Eur J Hum Genet. 2010;18(7):761–7. Karoulias SZ, Beyens A, Balic Z, Symoens S, Vandersteen A, Rideout AL, . A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix. Matrix Biol. 2020;88:1–18. Robinson PN, Godfrey M. The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet. 2000;37(1):9–25. Kielty CM, Sherratt MJ, Marson A, Baldock C. Fibrillin microfibrils. Adv Protein Chem. 2005;70:405–36. Evereklioglu C, Hepsen IF, Er H. Weill-Marchesani syndrome in three generations. Eye. 1999;13 ( Pt 6)(Pt 6):773–7. Rauf B, Irum B, Khan SY, Kabir F, Naeem MA, Riazuddin S, . Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma. Mol Vis. 2020;26:14–25. Hirai M, Horiguchi M, Ohbayashi T, Kita T, Chien KR, Nakamura T. Latent TGF-beta-binding protein 2 binds to DANCE/fibulin-5 and regulates elastic fiber assembly. Embo j.. 2007;26(14):3283–95. Haji-Seyed-Javadi R, Jelodari-Mamaghani S, Paylakhi SH, Yazdani S, Nilforushan N, Fan JB, . LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. Hum Mutat. 2012;33(8):1182–7. Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Mégarbané A, Alswaid A, . ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet. 2004;75(5):801–6. Saharinen J, Keski-Oja J. Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta. Mol Biol Cell. 2000;11(8):2691–704. Yang Y, Zhou YL, Yao TT, Pan H, Gu P, Wang ZY. Novel p.G1344E mutation in FBN1 is associated with ectopia lentis. Br J Ophthalmol. 2021;105(3):341–7. Lin Z, Zhu M, Deng H. A pedigree report of a rare case of weill-marchesani syndrome with new compound heterozygous LTBP2 mutations. Risk Manag Healthc Policy. 2021;14:1785–9. Steinkellner H, Etzler J, Gogoll L, Neesen J, Stifter E, Brandau O, . Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome. Eur J Hum Genet. 2015;23(9):1186–91. |
| References_xml | – reference: Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Mégarbané A, Alswaid A, . ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet. 2004;75(5):801–6. – reference: Rauf B, Irum B, Khan SY, Kabir F, Naeem MA, Riazuddin S, . Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma. Mol Vis. 2020;26:14–25. – reference: Inoue T, Ohbayashi T, Fujikawa Y, Yoshida H, Akama TO, Noda K, . Latent TGF-β binding protein-2 is essential for the development of ciliary zonule microfibrils. Hum Mol Genet. 2014;23(21):5672–82. – reference: Kielty CM, Sherratt MJ, Marson A, Baldock C. Fibrillin microfibrils. Adv Protein Chem. 2005;70:405–36. – reference: Désir J, Sznajer Y, Depasse F, Roulez F, Schrooyen M, Meire F, . LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. Eur J Hum Genet. 2010;18(7):761–7. – reference: Steinkellner H, Etzler J, Gogoll L, Neesen J, Stifter E, Brandau O, . Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome. Eur J Hum Genet. 2015;23(9):1186–91. – reference: Yang GY, Huang X, Chen BJ, Xu ZP. Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance. Chin Med J. 2021;134(11):1359–61. – reference: Yang Y, Zhou YL, Yao TT, Pan H, Gu P, Wang ZY. Novel p.G1344E mutation in FBN1 is associated with ectopia lentis. Br J Ophthalmol. 2021;105(3):341–7. – reference: Shah MH, Bhat V, Shetty JS, Kumar A. Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. Mol Vis. 2014;20:790–6. – reference: Xu M, Li K, He W. Compound heterozygous mutations in the LTBP2 gene associated with microspherophakia in a Chinese patient: a case report and literature review. BMC Med Genomics. 2021;14(1):227. – reference: Robinson PN, Godfrey M. The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet. 2000;37(1):9–25. – reference: Morén A, Olofsson A, Stenman G, Sahlin P, Kanzaki T, Claesson-Welsh L, . Identification and characterization of LTBP-2, a novel latent transforming growth factor-beta-binding protein. J Biol Chem. 1994;269(51):32469–78. – reference: Oklü R, Hesketh R. The latent transforming growth factor beta binding protein (LTBP) family. Biochem J. 2000;352 Pt 3(Pt 3):601–10. – reference: Saharinen J, Keski-Oja J. Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta. Mol Biol Cell. 2000;11(8):2691–704. – reference: Faivre L, Dollfus H, Lyonnet S, Alembik Y, Mégarbané A, Samples J, . Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet. 2003;123a(2):204–7. – reference: Evereklioglu C, Hepsen IF, Er H. Weill-Marchesani syndrome in three generations. Eye. 1999;13 ( Pt 6)(Pt 6):773–7. – reference: Haji-Seyed-Javadi R, Jelodari-Mamaghani S, Paylakhi SH, Yazdani S, Nilforushan N, Fan JB, . LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. Hum Mutat. 2012;33(8):1182–7. – reference: Lin Z, Zhu M, Deng H. A pedigree report of a rare case of weill-marchesani syndrome with new compound heterozygous LTBP2 mutations. Risk Manag Healthc Policy. 2021;14:1785–9. – reference: Fujikawa Y, Yoshida H, Inoue T, Ohbayashi T, Noda K, von Melchner H, . Latent TGF-β binding protein 2 and 4 have essential overlapping functions in microfibril development. Sci Rep. 2017;7:43714. – reference: Hirai M, Horiguchi M, Ohbayashi T, Kita T, Chien KR, Nakamura T. Latent TGF-beta-binding protein 2 binds to DANCE/fibulin-5 and regulates elastic fiber assembly. Embo j.. 2007;26(14):3283–95. – reference: Karoulias SZ, Beyens A, Balic Z, Symoens S, Vandersteen A, Rideout AL, . A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix. Matrix Biol. 2020;88:1–18. |
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Introduction: Weill-Marchesani syndrome (WMS) is a hereditary connective tissue disorder with substantial heterogeneity in clinical features and... Introduction: Weill-Marchesani syndrome (WMS) is a hereditary connective tissue disorder with substantial heterogeneity in clinical features and genetic... Weill-Marchesani syndrome (WMS) is a hereditary connective tissue disorder with substantial heterogeneity in clinical features and genetic etiology, so it is... |
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| Title | Autosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2 |
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