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Article

Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome.

Journal of human genetics - 1 Apr 2015

Koh Kishin, Kobayashi Fumikazu, Miwa Michiaki, Shindo Kazumasa, Isozaki Eiji, Ishiura Hiroyuki, Tsuji Shoji, Takiyama Yoshihisa

Abstract excerpt

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...

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Source

Identifiers

PMID: 25631098
DOI: 10.1038/jhg.2015.3

Genes

PNPLA6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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