Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY
Ophthalmic Genetics Pub Date : 2024-06-01 Epub Date: 2024-02-01 DOI:10.1080/13816810.2024.2309700
Kirstine Bolette Boysen, Zeynep Tümer, Daniella Bach-Holm, Anne-Marie Bisgaard, Line Kessel
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引用次数: 0

Abstract

Background: Stickler syndrome (STL) is a collagenopathy caused by pathogenic variants in collagen-coding genes, mainly COL2A1 or COL11A1 associated with Stickler syndrome type 1 (STL1) or type 2 (STL2), respectively. Affected individuals manifest ocular, auditory, articular, and craniofacial findings in varying degrees. Previous literature and case reports describe high variability in clinical findings for patients with STL. With this case report, we broaden the clinical spectrum of the phenotype.

Materials and methods: Case report on two members of a family (mother and son) including clinical examination and genetic testing using targeted trio whole exome sequencing (trio-WES).

Results: A boy and his mother presented with microphthalmia, congenital cataract, ptosis, and moderate-to-severe sensorineural hearing loss. Trio-WES found a novel heterozygote missense variant, c.4526A>G; p(Gln1509Arg) in COL11A1 in both affected individuals.

Conclusions: We report a previously undescribed phenotype associated with a COL11A1-variant in a mother and son, expanding the spectrum for phenotype-genotype correlation in STL2, presenting with microphthalmia, congenital cataract, and ptosis not normally associated with Stickler syndrome.

两名斯蒂克勒综合征 II 型患者的小眼症和先天性白内障:病例报告。
背景:斯蒂克勒综合征(STL)是一种胶原蛋白病,由编码胶原蛋白基因的致病变异引起,主要是 COL2A1 或 COL11A1 分别与斯蒂克勒综合征 1 型(STL1)或 2 型(STL2)相关。受影响的个体表现出不同程度的眼部、听觉、关节和颅面症状。以往的文献和病例报告显示,STL 患者的临床表现差异很大。通过本病例报告,我们拓宽了该表型的临床范围:病例报告涉及一个家庭的两名成员(母亲和儿子),包括临床检查和使用靶向三重全外显子测序(trio-WES)进行的基因检测:结果:一名男孩和他的母亲患有小眼症、先天性白内障、上睑下垂和中重度感音神经性听力损失。三重-WES 在两个患者的 COL11A1 中发现了一个新的杂合子错义变异,c.4526A>G; p(Gln1509Arg):结论:我们报告了一对母子中与 COL11A1 变异相关的、之前未曾描述过的表型,这扩大了 STL2 表型-基因型相关性的范围,表现为小眼症、先天性白内障和上睑下垂,这通常与 Stickler 综合征无关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Ophthalmic Genetics
Ophthalmic Genetics 医学-眼科学
CiteScore
2.40
自引率
8.30%
发文量
126
审稿时长
>12 weeks
期刊介绍: Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
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