Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY Molecular Syndromology Pub Date : 2023-06-01 Epub Date: 2023-02-01 DOI:10.1159/000528651

Muhammad Bilal, Tobias B Haack, Rebecca Buchert, Susana Peralta, Najum Uddin, Raja Hussain Ali, Khurram Liaqat, Wasim Ahmad

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Abstract

Introduction: Syndactyly is a common congenital limb malformation. It occurs due to embryological failure of digit separation during limb development. Syndactyly often runs in families with an incidence of about one out of every 2,500-3,000 live births.

Methods: Here, we have reported two families presenting features of severe forms of syndactyly. The disorder segregated in autosomal recessive in one and in autosomal dominant manner in the second family. Search for the causative variants was carried out using whole-exome sequencing in family A and candidate gene sequencing in family B.

Results: Analysis of the sequencing data revealed two novel missense variants, including p.(Cys1925Arg) in MEGF8 in family A and p.(Thr89Ile) in GJA1 in family B.

Conclusion: In conclusion, the novel findings, presented here, not only expand the mutation spectrum in the genes MEGF8 and GJA1, but this will also facilitate screening other families carrying similar clinical features in the Pakistani population.

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MEGF8和GJA1并指序列变异。

并指畸形是一种常见的先天性肢体畸形。它是由于肢体发育过程中手指分离的胚胎学失败而发生的。并指畸形通常在家庭中发生，大约每2500 - 3000个活产儿中就有一个。方法:在这里，我们报告了两个家庭表现出严重形式的并指畸形。该疾病在一个家族中以常染色体隐性遗传方式分离，在第二个家族中以常染色体显性方式分离。结果:对测序数据进行分析，发现A家族MEGF8基因中p.(Cys1925Arg)和b家族GJA1基因中p.(Thr89Ile)两个新的错义变异。总之，本文提出的新发现不仅扩大了MEGF8和GJA1基因的突变谱，而且还将有助于筛查巴基斯坦人群中具有类似临床特征的其他家族。

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.