FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY Molecular Syndromology Pub Date : 2023-02-01 DOI:10.1159/000525215

Aysel Tekmenuray-Unal, Ceren Damla Durmaz

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引用次数: 1

Abstract

Introduction: FBLN5-related cutis laxa is a very rare, autosomal recessive syndrome that is characterized by loose, wrinkled, and redundant skin, sagging cheeks, emphysema, aortic or pulmonary artery abnormalities, inguinal hernia, and diverticula of the gastrointestinal and urinary tract.

Case presentation: In this study, we report an 8-year-old Turkish girl with a novel homozygous missense variant in the FBLN5 gene, c.862G>T, p.(Asp288Tyr). Her unaffected parents were carriers of the same variant. The patient had loose skin, short stature, broad eyebrows, large ears, inguinal hernia, frequent respiratory tract infections, a history of peripheral pulmonary artery stenosis, and fourth finger contractures on both hands.

Discussion: To our knowledge, 8 families have been reported to date, and this family is the third Turkish family with FBLN5-related cutis laxa. In addition to the classical findings of cutis laxa, the patient had fourth finger contractures on both hands. This report contributes to the ongoing clinical and genetic characterization of FBLN5-related cutis laxa.

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fbln5相关皮肤松弛综合征:1例新变异及文献复习

简介:fbln5相关皮肤松弛症是一种非常罕见的常染色体隐性综合征，其特征为皮肤松弛、皱褶、多余、面颊下垂、肺气肿、主动脉或肺动脉异常、腹股沟疝、胃肠道和尿路憩室。病例介绍:在这项研究中，我们报告了一名8岁的土耳其女孩，其FBLN5基因出现了一种新的纯合错义变异，c.862G>T, p.(Asp288Tyr)。她未受影响的父母也是这种变异的携带者。患者皮肤疏松，身材矮小，眉宽，耳大，腹股沟疝，呼吸道感染频繁，有肺外周动脉狭窄史，双手无名指挛缩。讨论:据我们所知，迄今为止已报道了8个家庭，该家庭是第三个土耳其家庭与fbln5相关的皮肤松弛症。除了皮肤松弛的典型表现外，患者还有双手的无名指挛缩。该报告有助于fbln5相关皮肤松弛症的持续临床和遗传特征。

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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.