Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
Department of Cardiovascular Medicine, Nephrology and Neurology, Graduate School of Medicine, University of the Ryukyus, Okinawa, Japan.
J Peripher Nerv Syst. 2020 Jun;25(2):125-131. doi: 10.1111/jns.12369. Epub 2020 Mar 12.
Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene have been reported with different clinical phenotypes including Silver syndrome (SS)/spastic paraplegia 17 (SPG17), distal hereditary motor neuropathy type V (dHMN-V), and Charcot-Marie-Tooth (CMT) disease type 2. We screened 407 Japanese patients who were clinically suspected of having CMT by exome sequencing and searched mutations in BSCL2. As a result, we identified five patients with heterozygous mutations in BSCL2. We confirmed three cases of known mutations (p.N88S and p.S90L) and two cases of novel mutations (p.N88T and p.S141A). The clinical features of the cases with known mutations in Japan were similar to those previously reported in other countries. In particular, there were many cases with sensory disturbance. The case with p.N88T mutation showed severe phenotype such as early onset age and prominent vocal cord paresis. The case with p.S141A mutation showed characteristics of demyelinating neuropathy such as CMT disease type 1 by electrophysiological examination. In this article, we report the clinical features and spread of cases with BSCL2 mutation in a Japanese cohort.
贝伦-西普先天性脂肪营养不良 2 型（BSCL2）基因的杂合突变已被报道，具有不同的临床表型，包括银综合征（SS）/痉挛性截瘫 17 型（SPG17）、远端遗传性运动神经病 5 型（dHMN-V）和 Charcot-Marie-Tooth（CMT）病 2 型。我们通过外显子组测序对 407 名临床疑似 CMT 的日本患者进行了筛选，并搜索了 BSCL2 中的突变。结果，我们在 BSCL2 中发现了 5 名杂合突变的患者。我们证实了 3 例已知突变（p.N88S 和 p.S90L）和 2 例新突变（p.N88T 和 p.S141A）。日本已知突变病例的临床特征与其他国家以前报道的相似。特别是，有许多病例伴有感觉障碍。携带 p.N88T 突变的病例表现出严重的表型，如发病年龄早和明显声带麻痹。携带 p.S141A 突变的病例在电生理学检查中表现出脱髓鞘神经病的特征，如 CMT 病 1 型。在本文中，我们报告了 BSCL2 突变在日本队列中的病例的临床特征和分布。
