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Article

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.

Journal of human genetics - 1 Apr 2017

Mizuguchi Takeshi, Nakashima Mitsuko, Kato Mitsuhiro, Yamada Keitaro, Okanishi Tohru, Ekhilevitch Nina, Mandel Hanna, Eran Ayelet, Toyono Miyuki, Sawaishi Yukio, Motoi Hirotaka, Shiina Masaaki, Ogata Kazuhiro, Miyatake Satoko, Miyake Noriko, Saitsu Hirotomo, Matsumoto Naomichi

Abstract excerpt

Here we present four unrelated families with six individuals that have infantile-onset developmental delay/regression and epilepsy. Whole-exome sequencing revealed compound heterozygous mutations, c.[283G>A];[607G>A] in a gene encoding prolyl-tRNA synthetase (PARS2) in one family. Two pairs of compound heterozygous mutations, c.[151C>T];[1184T>G] and c.[707T>G];[594+1G>A], and a homozygous mutation,...

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Identifiers

PMID: 28077841
DOI: 10.1038/jhg.2016.163

Genes

NARS2
PARS2

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