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Article

GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

Molecular genetics and metabolism - 1 Mar 2014

Gotoh Leo, Inoue Ken, Helman Guy, Mora Sara, Maski Kiran, Soul Janet S, Bloom Miriam, Evans Sarah H, Goto Yu-Ichi, Caldovic Ljubica, Hobson Grace M, Vanderver Adeline

Abstract excerpt

OBJECTIVE: Pelizaeus-Merzbacher-like disease is a rare hypomyelinating leukodystrophy caused by autosomal recessive mutations in GJC2, encoding a gap junction protein essential for production of a mature myelin sheath. A previously identified GJC2 mutation (c.-167A>G) in the promoter region is hypothesized to disrupt a putative SOX10 binding site; however, the lack of additional mutations in this region and...

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Share to Hereditary Central Nervous System Demyelinating Diseases

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Source

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Identifiers

PMID: 24374284
DOI: 10.1016/j.ymgme.2013.12.001
PMCID: PMC4183365

Genes

GJC2
SOX10

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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