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Novel p.G1344E mutation in FBN1 is associated with ectopia lentis

BACKGROUND: Ectopia lentis refers to dislocation or subluxation of the crystalline lens. Fibrillin-1, encoded by FBN1, is an important microfibrillar structural component that is specifically required for the suspensory ligament of the lens. FBN1 mutations may cause abnormal structure of microfibril...

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Autores principales: Yang, Yuan, Zhou, Ya-li, Yao, Teng-teng, Pan, Hui, Gu, Ping, Wang, Zhao-yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7907564/
https://www.ncbi.nlm.nih.gov/pubmed/32404357
http://dx.doi.org/10.1136/bjophthalmol-2019-315265
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author Yang, Yuan
Zhou, Ya-li
Yao, Teng-teng
Pan, Hui
Gu, Ping
Wang, Zhao-yang
author_facet Yang, Yuan
Zhou, Ya-li
Yao, Teng-teng
Pan, Hui
Gu, Ping
Wang, Zhao-yang
author_sort Yang, Yuan
collection PubMed
description BACKGROUND: Ectopia lentis refers to dislocation or subluxation of the crystalline lens. Fibrillin-1, encoded by FBN1, is an important microfibrillar structural component that is specifically required for the suspensory ligament of the lens. FBN1 mutations may cause abnormal structure of microfibrils and has been associated with a broad spectrum of clinical phenotypes. In this study, we characterised a Chinese dominant family with late-onset isolated ectopia lentis caused by a novel missense FBN1 mutation. METHODS: Eight family members, including four patients with suspected isolated ectopia lentis, were recruited from Shanghai. Clinical data and family history of the proband and other affected family members were collected. Ophthalmic examination, systemic examination and echocardiography were performed. Whole exome sequencing and Sanger sequencing were used to detect potential pathogenic variants. RESULTS: A novel heterozygous missense mutation c.4031 G>A/p.Gly1344Glu in exon 33 of FBN1 was identified. This mutation was detected in all affected family members and led to specific ocular system phenotypes (ectopia lentis, microspherophakia and secondary glaucoma) with minor skeletal involvement (hallux valgus). CONCLUSION: The novel c.4031G>A mutation in FBN1 is a likely pathogenic mutation for isolated ectopia lentis. Our study expands the spectrum of FBN1 mutations and contributes to better comprehension of genotype-phenotype correlations of ectopia lentis disease.
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spelling pubmed-79075642021-03-11 Novel p.G1344E mutation in FBN1 is associated with ectopia lentis Yang, Yuan Zhou, Ya-li Yao, Teng-teng Pan, Hui Gu, Ping Wang, Zhao-yang Br J Ophthalmol Clinical Science BACKGROUND: Ectopia lentis refers to dislocation or subluxation of the crystalline lens. Fibrillin-1, encoded by FBN1, is an important microfibrillar structural component that is specifically required for the suspensory ligament of the lens. FBN1 mutations may cause abnormal structure of microfibrils and has been associated with a broad spectrum of clinical phenotypes. In this study, we characterised a Chinese dominant family with late-onset isolated ectopia lentis caused by a novel missense FBN1 mutation. METHODS: Eight family members, including four patients with suspected isolated ectopia lentis, were recruited from Shanghai. Clinical data and family history of the proband and other affected family members were collected. Ophthalmic examination, systemic examination and echocardiography were performed. Whole exome sequencing and Sanger sequencing were used to detect potential pathogenic variants. RESULTS: A novel heterozygous missense mutation c.4031 G>A/p.Gly1344Glu in exon 33 of FBN1 was identified. This mutation was detected in all affected family members and led to specific ocular system phenotypes (ectopia lentis, microspherophakia and secondary glaucoma) with minor skeletal involvement (hallux valgus). CONCLUSION: The novel c.4031G>A mutation in FBN1 is a likely pathogenic mutation for isolated ectopia lentis. Our study expands the spectrum of FBN1 mutations and contributes to better comprehension of genotype-phenotype correlations of ectopia lentis disease. BMJ Publishing Group 2021-03 2020-05-13 /pmc/articles/PMC7907564/ /pubmed/32404357 http://dx.doi.org/10.1136/bjophthalmol-2019-315265 Text en © Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.
spellingShingle Clinical Science
Yang, Yuan
Zhou, Ya-li
Yao, Teng-teng
Pan, Hui
Gu, Ping
Wang, Zhao-yang
Novel p.G1344E mutation in FBN1 is associated with ectopia lentis
title Novel p.G1344E mutation in FBN1 is associated with ectopia lentis
title_full Novel p.G1344E mutation in FBN1 is associated with ectopia lentis
title_fullStr Novel p.G1344E mutation in FBN1 is associated with ectopia lentis
title_full_unstemmed Novel p.G1344E mutation in FBN1 is associated with ectopia lentis
title_short Novel p.G1344E mutation in FBN1 is associated with ectopia lentis
title_sort novel p.g1344e mutation in fbn1 is associated with ectopia lentis
topic Clinical Science
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7907564/
https://www.ncbi.nlm.nih.gov/pubmed/32404357
http://dx.doi.org/10.1136/bjophthalmol-2019-315265
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