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Article

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.

Nature genetics - 1 Apr 2004

Inoue Ken, Khajavi Mehrdad, Ohyama Tomoko, Hirabayashi Shin-ichi, Wilson John, Reggin James D, Mancias Pedro, Butler Ian J, Wilkinson Miles F, Wegner Michael, Lupski James R

Abstract excerpt

The molecular mechanisms by which different mutations in the same gene can result in distinct disease phenotypes remain largely unknown. Truncating mutations of SOX10 cause either a complex neurocristopathy designated PCWH or a more restricted phenotype known as Waardenburg-Shah syndrome (WS4; OMIM 277580). Here we report that although all nonsense and frameshift mutations that cause premature termination of...

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Source

Identifiers

PMID: 15004559
DOI: 10.1038/ng1322

Genes

SOX10
MPZ

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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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