title: Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome.
abstract: 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-Neuhäuser 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.
authors: Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan.
authors: Kishin
authors: K
authors: Koh
authors: Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan.
authors: Fumikazu
authors: F
authors: Kobayashi
authors: Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan.
authors: Michiaki
authors: M
authors: Miwa
authors: Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan.
authors: Kazumasa
authors: K
authors: Shindo
authors: Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
authors: Eiji
authors: E
authors: Isozaki
authors: Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
authors: Hiroyuki
authors: H
authors: Ishiura
authors: Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
authors: Shoji
authors: S
authors: Tsuji
authors: Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan.
authors: Yoshihisa
authors: Y
authors: Takiyama
mesh_terms: D001483:Base Sequence; D059472:Exome; D005260:Female; D056726:Genetic Association Studies; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing; D006720:Homozygote; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D009504:Neutrophils / Q000473:pathology; D010740:Phospholipases / Q000235:genetics*; D058499:Retinal Dystrophies / Q000175:diagnosis / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics*; D000217:Acyltransferases
chemical_list: D010740:Phospholipases; C586915:PNPLA6 protein, human; D000217:Acyltransferases
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