SENP7剪接位点变异导致严重形式的关节挛缩。

IF 2.9 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2025-01-04 DOI:10.1111/cge.14698

Udhaya Kotecha, Euri S Kim, Parth S Shah, Nidhi Shah, Vandana A Gupta

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引用次数: 0

摘要

多发性先天性关节挛缩症（AMC）是一种异质性疾病，与1/3000至1/5000活产有关。我们报告了一个有多个受影响成员患有AMC的近亲家庭，并在高度保守的剪接供体位点发现了一个隐性突变，导致受影响的外显子剪接错误。SENP7是一种deSUMOylase，通过调节骨骼肌的转录程序，对肌节组装和骨骼肌收缩至关重要。这是一个具有非编码剪接位点SENP7变异的受影响家庭的报告病例，扩大了SENP7作为致死性AMC罕见病例的致病基因的范围。

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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A Splice Site Variant in SENP7 Results in a Severe Form of Arthrogryposis.

Arthrogryposis multiplex congenita (AMC) is a heterogeneous disorder associated with 1/3000 to 1/5000 live births. We report a consanguineous family with multiple affected members with AMC and identified a recessive mutation in the highly conserved splice donor site, resulting in the mis-splicing of the affected exons. SENP7 is a deSUMOylase that is critical for sarcomere assembly and skeletal muscle contraction by regulating the transcriptional program in the skeletal muscle. This is a reported case of an affected family with a noncoding, splice site SENP7 variant, expanding the spectrum of SENP7 as a causative gene in rare cases of lethal AMC.

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来源期刊

Clinical Genetics 医学-遗传学

CiteScore

6.50

自引率

0.00%

发文量

175

审稿时长

3-8 weeks

期刊介绍： Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease