Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2023-12-01 Epub Date: 2023-06-20 DOI:10.1159/000531069

Muhammad Bilal, Tobias B Haack, Rebecca Buchert, Susana Peralta, Imtiaz Ahmad, Faisal, Sanaullah Abbasi, Wasim Ahmad

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引用次数: 0

Abstract

Introduction: Split hand and foot malformation (SHFM) or ectrodactyly is a rare limb deformity characterized by median cleft of the hand and foot with impaired or missing central rays. It can occur as an isolated anomaly or in association with abnormalities of other body parts.

Methods: After delineating the clinical features of two families (A-B), with non-syndromic SHFM, exome and Sanger sequencing were employed to search for the disease-causing variants.

Results: Analysis of exome and Sanger sequencing data revealed two causative variants in the WNT10B gene in affected members of the two families. This included a novel missense change [c.338G>C; p.(Gly113Ala)] in family A and a previously reported frameshift variant [c.884-896delTCCAGCCCCGTCT; p.(Phe295Cysfs*87)] in family B.

Conclusion: Our findings add a novel variant in WNT10B gene as the underlying cause of SHFM. The finding adds to the growing body of knowledge about the genetic basis of developmental disorders and provides valuable insights into the molecular mechanisms that regulate limb development.

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WNT10B潜在非综合征性手足裂畸形的序列变异。

简介:手足裂畸形(SHFM)或指外畸形是一种罕见的肢体畸形，其特征是手脚正中裂，中央射线受损或缺失。它可以作为一个孤立的异常或与其他身体部位的异常相关联。方法:在描述两个家族(A-B)的临床特征后，采用非综合征性SHFM，采用外显子组和Sanger测序寻找致病变异。结果:外显子组分析和Sanger测序数据揭示了两个家族受影响成员的WNT10B基因的两个致病变异。这包括一个新的错义变化[C . 338g >C;p.(Gly113Ala)]和先前报道的移码变异[c.884-896delTCCAGCCCCGTCT;[p. [Phe295Cysfs*87]]结论:本研究发现WNT10B基因的一个新变异可能是SHFM的潜在病因。这一发现增加了关于发育障碍遗传基础的知识体系，并为调节肢体发育的分子机制提供了有价值的见解。

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.