Novel mutations in the PNPLA6 gene in Boucher-Neuhauser syndrome

被引：14

作者：

Koh, Kishin ^{[1
]}

Kobayashi, Fumikazu ^{[1
]}

Miwa, Michiaki ^{[1
]}

Shindo, Kazumasa ^{[1
]}

Isozaki, Eiji ^{[2
]}

Ishiura, Hiroyuki ^{[3
]}

Tsuji, Shoji ^{[3
]}

Takiyama, Yoshihisa ^{[1
]}

机构：

[1] Univ Yamanashi, Interdisciplinary Grad Sch Med & Engn, Dept Neurol, Chuo, Yamanashi 4093898, Japan

[2] Tokyo Metropolitan Neurol Hosp, Dept Neurol, Tokyo, Japan

[3] Univ Tokyo, Grad Sch Med, Dept Neurol, Tokyo, Japan

来源：

JOURNAL OF HUMAN GENETICS | 2015年 / 60卷 / 04期

关键词：

NEUROPATHY TARGET ESTERASE; ATAXIA; BRAIN;

D O I：

10.1038/jhg.2015.3

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

On whole-exome sequencing, a novel compound heterozygous mutation (c.2923A>G/c.3523_3524insTGTCCG, p.T975A/p.1175_1176insVS) and a novel homozygous one (c.3534G>C, p.W1178C) in the PNPLA6 gene were identified in sporadic and familial Japanese patients with Boucher-Neuhauser syndrome (BNS), respectively. However, we did not find any mutations in the PNPLA6 gene in 88 patients with autosomal recessive hereditary spastic paraplegia (ARHSP). Our study confirmed the earlier report that a PNPLA6 mutation causes BNS. This is the first report on PNPLA6 mutations in non-Caucasian patients. Meanwhile, PNPLA6 mutations might be extremely rare in Japanese ARHSP patients. Moreover, we first found hypersegmented neutrophils in two BNS patients with PNPLA6 mutations.

引用

页码：217 / 220

页数：4

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