一个中国家族中因 LTBP2 的新型单倍型突变导致的常染色体显性 Weill-Marchesani-like 综合征。

IF 2 4区 医学 Q2 OPHTHALMOLOGY
Ophthalmic Research Pub Date : 2024-01-01 Epub Date: 2024-05-21 DOI:10.1159/000538844
Juan Chen, Jifeng Wan, Jiayi Jin, Guangming Jin, Yongxin Zheng, Danying Zheng, Liuxueying Zhong
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引用次数: 0

摘要

简介韦尔-马切桑尼综合征(WMS)是一种遗传性结缔组织疾病,其临床特征和遗传病因具有很大的异质性,因此,确定完整的突变谱对于早期诊断至关重要。在这项研究中,我们报告了潜伏转化生长因子β结合蛋白2(LTBP2)的新型单倍型突变导致的Weill-Marchesani-like综合征(WMS-like)变为常染色体显性遗传:从广州一个四代同堂的中国家庭中招募了 25 名成员,其中 9 人被诊断患有 WMS 样疾病,9 人健康,7 人因年龄较小而临床状态 "不确定"。所有成员都接受了详细的身体和眼部检查。全外显子组测序、桑格测序和实时 PCR 被用来鉴定和验证家族成员的致病基因突变:结果:基因测序发现,在与WMS-like相关的同一条LTBP2染色体上存在新的单倍型突变,即第16号外显子c. 2657C>A/p.T886K和第25-36号外显子缺失。在临床诊断为 WMS-like 的患者和一名 "不确定 "儿童中,实时 PCR 和 Sanger 测序验证了这两个突变。在这些患者中,单倍型突变导致了眼睑外翻、身材矮小和肥胖: 我们的研究表明,WMS-like 可能与单倍型 LTBP2 突变有关,且为常染色体显性遗传。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Autosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2.

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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来源期刊
Ophthalmic Research
Ophthalmic Research 医学-眼科学
CiteScore
3.80
自引率
4.80%
发文量
75
审稿时长
6-12 weeks
期刊介绍: ''Ophthalmic Research'' features original papers and reviews reporting on translational and clinical studies. Authors from throughout the world cover research topics on every field in connection with physical, physiologic, pharmacological, biochemical and molecular biological aspects of ophthalmology. This journal also aims to provide a record of international clinical research for both researchers and clinicians in ophthalmology. Finally, the transfer of information from fundamental research to clinical research and clinical practice is particularly welcome.
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