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Article

Additive dominant effect of a SOX10 mutation underlies a complex phenotype of PCWH.

Neurobiology of disease - 1 Aug 2015

Ito Yukiko, Inoue Naoko, Inoue Yukiko U, Nakamura Shoko, Matsuda Yoshiki, Inagaki Masumi, Ohkubo Takahiro, Asami Junko, Terakawa Youhei W, Kohsaka Shinichi, Goto Yu-ichi, Akazawa Chihiro, Inoue Takayoshi, Inoue Ken

Abstract excerpt

Distinct classes of SOX10 mutations result in peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease, collectively known as PCWH. Meanwhile, SOX10 haploinsufficiency caused by allelic loss-of-function mutations leads to a milder non-neurological disorder, Waardenburg-Hirschsprung disease. The cellular pathogenesis of more complex PCWH phenotypes...

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Source

Identifiers

PMID: 25959061
DOI: 10.1016/j.nbd.2015.04.013

Genes

SOX10

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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