在一个患有严重形式斯奈德 - 罗宾逊综合征的大家庭中鉴定SMS基因中的罕见分支点变异
Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome.
作者信息
Civit Antoine, Ronce Nathalie, Cogné Benjamin, Besnard Thomas, Laurenceau David, Hubert Catherine, Moizard Marie-Pierre, Gueguen Paul, Toutain Annick, Vuillaume Marie-Laure
机构信息
Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.
Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.
出版信息
Clin Genet. 2025 Feb;107(2):231-233. doi: 10.1111/cge.14643. Epub 2024 Nov 10.
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.
在一个大型法国非近亲家庭中鉴定出SMS基因的首个致病分支点变异，该家庭的表型回顾性地与斯奈德-罗宾逊综合征一致。逆转录聚合酶链反应（RT-PCR）分析后进行RNA测序表明，这种变异导致了一种主要的异常转录本的合成，其中内含子6完全保留。
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