Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome

J Hum Genet. 2015 Apr;60(4):217-20. doi: 10.1038/jhg.2015.3. Epub 2015 Jan 29.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Exome
  • Female
  • Genetic Association Studies
  • Heterozygote
  • High-Throughput Nucleotide Sequencing
  • Homozygote
  • Humans
  • Hypogonadism / diagnosis
  • Hypogonadism / genetics*
  • Male
  • Mutation*
  • Neutrophils / pathology
  • Phospholipases / genetics*
  • Retinal Dystrophies / diagnosis
  • Retinal Dystrophies / genetics*
  • Spinocerebellar Ataxias / diagnosis
  • Spinocerebellar Ataxias / genetics*

Substances

  • PNPLA6 protein, human
  • Phospholipases

Supplementary concepts

  • Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism