Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2015-04

AUTHORS

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

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. More... »

PAGES

217-220

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2015.3

DOI

http://dx.doi.org/10.1038/jhg.2015.3

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1028025616

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25631098


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