巴基斯坦一个家族中导致手足畸形的 UBA2 新型框架移位变体

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2023-05-23 DOI:10.1038/s41439-023-00242-z

Asia Parveen, Muhammad Tariq, Sher Alam Khan, Naseebullah Kakar, Amina Arif, Naveed Wasif

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引用次数: 0

摘要

手足分裂畸形（SHFM）具有多种异质性，表现为低渗透性和多变的表达性。本研究调查了一个分离型 SHFM 家族的潜在遗传原因。通过外显子组测序和桑格测序发现，该家族中的 UBA2 存在一个新型单核苷酸杂合变异（NC_000019.9 (NM_005499.3):c.1118del），该变异为常染色体显性遗传。我们的研究结果表明，低渗透性和多变表达性是 SHFM 的两个显著而不寻常的特征。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family.

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A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family.

Split-hand/foot malformation (SHFM) shows diverse heterogeneity and manifests with reduced penetrance and variable expressivity. This study investigated the underlying genetic cause of a family segregating SHFM. Exome sequencing followed by Sanger sequencing identified a novel single nucleotide heterozygous variant (NC_000019.9 (NM_005499.3):c.1118del) in UBA2 cosegregating in the family in an autosomal dominant manner. Our findings conclude that reduced penetrance and variable expressivity are the two remarkable and unusual features of SHFM.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks