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.

中文翻译：

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在日本具有BSCL2突变的遗传性神经病的临床特征。

据报道，Berardinelli-Seip先天性脂肪营养不良2（BSCL2）基因的杂合突变具有不同的临床表型，包括银综合征（SS）/痉挛性截瘫17（SPG17），远端遗传性运动神经病V型（dHMN-V）和Charcot-玛丽牙齿（CMT）疾病类型2。我们通过外显子组测序筛选了407名日本临床怀疑患有CMT的日本患者，并搜索了BSCL2中的突变。结果，我们确定了5例BSCL2杂合突变的患者。我们确认了三例已知突变（p.N88S和p.S90L）和两例新型突变（p.N88T和p.S141A）。在日本，具有已知突变的病例的临床特征与其他国家先前报道的相似。特别是，很多情况下都有感觉障碍。p.N88T突变的病例表现出严重的表型，如发病年龄早和明显的声带轻瘫。p.S141A突变的病例通过电生理检查显示出脱髓鞘性神经病的特征，例如1型CMT疾病。在本文中，我们报告了日本人群中BSCL2突变病例的临床特征和传播情况。