异常 THOC2 剪接的肌表型描述。
Muscular phenotype description of abnormal THOC2 splicing.
机构信息
Pathology Department, Institut Universitaire du cancer de Toulouse, Toulouse, France; Genetic Medical Department, Toulouse University Hospital, Toulouse, France.
Grenoble Alpes University, Inserm, U1216, Grenoble Alpes University Hospital, Grenoble Institut Neurosciences, 38000 Grenoble, France.
出版信息
Neuromuscul Disord. 2023 Dec;33(12):978-982. doi: 10.1016/j.nmd.2023.09.009. Epub 2023 Oct 5.
Until recently, the disease known to be associated with THOC2 mutations was Intellectual developmental disorder, X-linked 12 (MIM300957). However, recently, fetal arthrogryposis multiplex congenita has been associated with a specific splice site mutation in the THOC2 gene. We report a family with the same splice site mutation in the THOC2 gene involved in fetal arthrogryposis as well. We provide the first description of the muscular phenotype of this disease which reveals the presence of cytoplasmic bodies. Our findings expand the clinical phenotype of THOC2 gene related defects.
直到最近，与 THOC2 突变相关的疾病被认为是 X 连锁 12 型智力发育障碍（MIM300957）。然而，最近，胎儿多发性关节挛缩症与 THOC2 基因的特定剪接位点突变有关。我们报告了一个家族，其 THOC2 基因中也存在相同的剪接位点突变，涉及胎儿多发性关节挛缩症。我们首次描述了这种疾病的肌肉表型，揭示了细胞质体的存在。我们的发现扩展了 THOC2 基因相关缺陷的临床表型。
Zotero 插件