Homozygous Val6Gly Variation in PRDM5 Gene Causing Brittle Cornea Syndrome: A New Turkish Case.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2023-04-01 Epub Date: 2022-11-07 DOI:10.1159/000524832

Aslıhan Sanrı, Selma Demir, Hakan Gurkan

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Abstract

Introduction: Brittle cornea syndrome (BCS) is a rare connective tissue disorder with ocular and systemic features. Extreme corneal thinning and fragility are the main hallmarks of BCS.

Case report: A 4-year-old boy presented with recurrent spontaneous corneal perforation. He had blue sclera, corneal leucoma, irregular iris, shallow anterior chamber, corneal astigmatism, and bilateral corneal thinning. He also had several systemic features including hearing loss, skin hyperelasticity, joint hypermobility, scoliosis, and umbilical hernia. A diagnosis of BCS was confirmed with molecular analysis. A homozygous c.17T>G, p.(Val6Gly) variation was identified in the PRDM5 gene.

Discussion: p.(Val6Gly) variation in PRDM5 was previously reported in 2 patients with BCS. We also considered PRDM5 c.17T>G, p.(Val6Gly) variation as pathogenic based on the following features: the absence of the variation in population databases, in silico predictions, segregation analysis, and clinical signs of our patient. Extremely thin and brittle corneas lead to corneal perforation spontaneously or after minor trauma. Nearly all patients have lost their vision because of corneal rupture and scars. The key challenge in the management of BCS is the prevention of ocular rupture which relies on early diagnosis. Early diagnosis allows for taking prompt measures to prevent ocular rupture.

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PRDM5基因的纯合Val6Gly变异导致脆性角膜综合征：一例土耳其新病例。

简介：脆性角膜综合征（BCS）是一种罕见的结缔组织疾病，具有眼部和全身特征。角膜极度稀疏和脆弱是BCS的主要特征。病例报告：一名4岁男孩出现复发性自发性角膜穿孔。他有蓝色巩膜、角膜白带、虹膜不规则、前房浅、角膜散光和双侧角膜变薄。他还有一些系统性特征，包括听力损失、皮肤超弹性、关节活动过度、脊柱侧弯和脐疝。分子分析证实了BCS的诊断。在PRDM5基因中发现了纯合的c.17T>G，p.（Val6Gly）变异。讨论：p.PRDM5的（Val6Gly）变异先前在2例BCS患者中报道。基于以下特征，我们还认为PRDM5 c.17T>G，p.（Val6Gly）变异是致病性的：人群数据库、计算机预测、分离分析和患者临床体征中没有变异。极度薄而脆的角膜会自发或在轻微创伤后导致角膜穿孔。几乎所有的患者都因为角膜破裂和疤痕而失去了视力。BCS管理的关键挑战是早期诊断的眼破裂预防。早期诊断可以及时采取措施防止眼部破裂。

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

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.