因基因纯合子基因内缺失导致的伴有严重二尖瓣关闭不全的埃利斯-范克里维尔德综合征
Ellis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of the Gene.
作者信息
Kolkiran Abdulkerim, Daşar Tuğba, Taşdelen Elifcan, Kaya Özkan
机构信息
Department of Paediatric Genetics, Etlik City Hospital, Ankara, Turkey.
Department of Paediatric Genetics, Bilkent City Hospital, Ankara, Turkey.
出版信息
Mol Syndromol. 2025 May;16(3):264-270. doi: 10.1159/000541665. Epub 2024 Oct 24.
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 and 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 gene at 4p16.2.
CONCLUSION
Herein, we present a case with an intragenic deletion of the gene and expand the clinical and genetic spectrum of Ellis-Van Creveld syndrome.
引言
埃利斯-范克里维尔德综合征是一种罕见的遗传性疾病，其特征为骨骼异常、心脏畸形以及出汗性外胚层发育不良的表现。心脏畸形在该综合征中很常见，存在时通常包括房间隔缺损。该疾病由 和 基因中的纯合或复合杂合致病变异引起。少数埃利斯-范克里维尔德综合征患者还被发现存在与这两个基因相关的拷贝数变异。
病例报告
一名13岁女童因身材矮小、四肢短小、接受过轴后多指切除术、指甲发育不全以及严重二尖瓣关闭不全被转诊至儿科遗传学部门。染色体微阵列分析在4p16.2处发现一个45 kb的纯合缺失，涵盖 基因的外显子3至11。
结论
在此，我们报告一例 基因发生基因内缺失的病例，并扩展了埃利斯-范克里维尔德综合征的临床和遗传谱。
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