Ellis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of the EVC Gene.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2025-05-01 Epub Date: 2024-10-24 DOI:10.1159/000541665

Abdulkerim Kolkiran, Tuğba Daşar, Elifcan Taşdelen, Özkan Kaya

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引用次数: 0

Abstract

Introduction: Ellis-Van Creveld syndrome is a rare genetic disorder characterised by skeletal abnormalities, cardiac anomalies, and findings of hidrotic ectodermal dysplasia. Cardiac anomalies are common in this syndrome and usually include an atrial septal defect when present. The disorder is caused by homozygous or compound heterozygous pathogenic variants in the EVC and EVC2 genes. A small number of patients with Ellis-Van Creveld syndrome have also been found to have copy number variants associated with these two genes.

Case presentation: A 13-year-old girl patient was referred to the paediatric genetic department with short stature, short extremities, operated post-axial polydactyly, nail hypoplasia, and severe mitral valve insufficiency. Chromosomal microarray analysis identified a 45 kb homozygous deletion encompassing exons 3-11 of the EVC gene at 4p16.2.

Conclusion: Herein, we present a case with an intragenic deletion of the EVC gene and expand the clinical and genetic spectrum of Ellis-Van Creveld syndrome.

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由EVC基因纯合子基因内缺失引起的Ellis-Van Creveld综合征伴严重二尖瓣功能不全。

Ellis-Van Creveld综合征是一种罕见的遗传性疾病，其特征是骨骼异常、心脏异常和汗液外胚层发育不良。心脏异常在这种综合征中很常见，当出现时通常包括房间隔缺损。这种疾病是由EVC和EVC2基因的纯合或复合杂合致病变异引起的。少数患有Ellis-Van Creveld综合征的患者也被发现有与这两个基因相关的拷贝数变异。病例介绍：一名13岁女孩因身材矮小，四肢短，手术后多指畸形，甲发育不全，二尖瓣严重不全被转介到儿科遗传科。染色体微阵列分析发现了一个45 kb的纯合缺失，包含EVC基因在4p16.2的外显子3-11。结论：在此，我们提出了EVC基因基因内缺失的病例，扩大了Ellis-Van Creveld综合征的临床和遗传谱。

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.