在一个患有严重斯奈德-罗宾逊综合征的大家庭中发现 SMS 基因的罕见分支点变异。

IF 2.9 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2024-11-10 DOI:10.1111/cge.14643

Antoine Civit, Nathalie Ronce, Benjamin Cogné, Thomas Besnard, David Laurenceau, Catherine Hubert, Marie-Pierre Moizard, Paul Gueguen, Annick Toutain, Marie-Laure Vuillaume

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引用次数: 0

摘要

在一个法国非近亲繁殖的大家庭中发现了 SMS 基因的第一个致病性分支点变体，其表型与斯奈德-罗宾逊综合征（Snyder-Robinson Syndrome）一致。RT-PCR分析和RNA测序结果表明，该变异导致合成一个完全保留第6内含子的主要异常转录本。

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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Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome.

Identification of the first pathogenic branch point variant in the SMS gene in a large French non-consanguineous family with a phenotype retrospectively consistent with Snyder-Robinson syndrome. RT-PCR analysis followed by RNA-sequencing demonstrated that this variant, lead to the synthesis of a predominant aberrant transcript with complete intron 6 retention.

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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