Genetic spectrum of Charcot–Marie–Tooth disease associated with myelin protein zero gene variants in Japan,Clinical Genetics

当前位置： X-MOL 学术 › Clin. Genet. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Genetic spectrum of Charcot–Marie–Tooth disease associated with myelin protein zero gene variants in Japan
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-11-11 , DOI: 10.1111/cge.13881
Takaki Taniguchi ₁ , Masahiro Ando ₁ , Yuji Okamoto _{1,

2} , Akiko Yoshimura ₁ , Yujiro Higuchi ₁ , Akihiro Hashiguchi ₁ , Kensuke Shiga _{3,

4} , Arisa Hayashida ₅ , Taku Hatano ₅ , Hiroyuki Ishiura ₆ , Jun Mitsui ₆ , Nobutaka Hattori ₅ , Toshiki Mizuno ₄ , Masanori Nakagawa _{4,

7} , Shoji Tsuji _{6,

8} , Hiroshi Takashima ₁

Affiliation

We aimed to reveal the genetic features associated with MPZ variants in Japan. From April 2007 to August 2017, 64 patients with 23 reported MPZ variants and 21 patients with 17 novel MPZ variants were investigated retrospectively. Variation in MPZ variants and the pathogenicity of novel variants was examined according to the American College of Medical Genetics standards and guidelines. Age of onset, cranial nerve involvement, serum creatine kinase (CK), and cerebrospinal fluid (CSF) protein were also analyzed. We identified 64 CMT patients with reported MPZ variants. The common variants observed in Japan were different from those observed in other countries. We identified 11 novel pathogenic variants from 13 patients. Six novel MPZ variants in eight patients were classified as likely benign or uncertain significance. Cranial nerve involvement was confirmed in 20 patients. Of 30 patients in whom serum CK levels were evaluated, eight had elevated levels. Most of the patients had age of onset >20 years. In another subset of 30 patients, 18 had elevated CSF protein levels; four of these patients had spinal diseases and two had enlarged nerve root or cauda equina. Our results suggest genetic diversity across patients with MPZ variants.

中文翻译：

日本与髓鞘蛋白零基因变异相关的 Charcot-Marie-Tooth 病的遗传谱

我们旨在揭示与日本MPZ变体相关的遗传特征。从 2007 年 4 月到 2017 年 8 月，对 64 名报告了 23 种MPZ变异的患者和 21 名具有 17 种新型MPZ变异的患者进行了回顾性研究。变异MPZ变异体，并根据医学遗传学标准和准则的美国大学进行了检查新变种的致病性。还分析了发病年龄、颅神经受累、血清肌酸激酶 (CK) 和脑脊液 (CSF) 蛋白。我们确定了 64 名报告MPZ 的CMT 患者变种。在日本观察到的常见变异与在其他国家观察到的变异不同。我们从 13 名患者中鉴定了 11 种新的致病变异。八名患者中的六种新型MPZ变异被归类为可能的良性或不确定的意义。20 名患者证实有颅神经受累。在评估血清 CK 水平的 30 名患者中，8 名患者的水平升高。大多数患者的发病年龄>20岁。在另一组 30 名患者中，18 名 CSF 蛋白水平升高；其中四名患者患有脊柱疾病，两名患者的神经根或马尾神经增大。我们的结果表明MPZ变异患者的遗传多样性。

更新日期：2020-11-11

点击分享查看原文

点击收藏

公开下载

阅读更多本刊最新论文本刊介绍/投稿指南11