眼咽远端肌病伴 GIPC1 中 CGG 重复扩展：来自中国西南部的首次报告。

Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China.

机构信息

Department of Rehabilitation Medicine, West China Hospital, Sichuan University; Key Laboratory of Rehabilitation Medicine in Sichuan Province, Chengdu, Sichuan, China.

Department of Pathology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.

出版信息

Neurol Sci. 2022 Jun;43(6):3989-3993. doi: 10.1007/s10072-022-06005-y. Epub 2022 Mar 22.

DOI:10.1007/s10072-022-06005-y

PMID:35314910

Abstract

Oculopharyngodistal myopathy (OPDM) is a rare adult-onset hereditary muscular disease characterized by slowly progressive ptosis, external ophthalmoplegia and weakness of the facial, pharyngeal and distal limb muscles. Recently, CGG repeat expansion mutations in three genes, LRP12, GIPC1 and NOTCH2NLC, have been identified as causative factors for OPDM. Here, we report clinicopathologically typical familial OPDM patients from southwestern China. CGG repeat expansions in GIPC1 were detected in two OPDM-affected individuals. Our study was the first GIPC1-OPDM report from southwestern China, further confirming expanded GGC repeats in GIPC1 as the cause of OPDM.

摘要

眼咽远端肌病（OPDM）是一种罕见的成人起病的遗传性肌肉疾病，其特征为进行性上睑下垂、眼外肌麻痹和面、咽和远端肢体肌无力。最近，LRP12、GIPC1 和 NOTCH2NLC 三个基因中的 CGG 重复扩展突变被确定为 OPDM 的致病因素。在此，我们报道了来自中国西南部具有典型临床病理特征的家族性 OPDM 患者。在两个 OPDM 患者中检测到 GIPC1 中的 CGG 重复扩展。我们的研究是来自中国西南部的首例 GIPC1-OPDM 报告，进一步证实 GIPC1 中扩展的 GGC 重复是 OPDM 的原因。