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Article

Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.

American journal of human genetics - 8 Jan 2015

Shinwari Jameela M A, Khan Arif, Awad Salma, Shinwari Zakia, Alaiya Ayodele, Alanazi Mohamad, Tahir Asma, Poizat Coralie, Al Tassan Nada

Abstract excerpt

Abnormal ocular motility is a common clinical feature in congenital cranial dysinnervation disorder (CCDD). To date, eight genes related to neuronal development have been associated with different CCDD phenotypes. By using linkage analysis, candidate gene screening, and exome sequencing, we identified three mutations in collagen, type XXV, alpha 1 (COL25A1) in individuals with autosomal-recessive inheritance of...

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Identifiers

PMID: 25500261
DOI: 10.1016/j.ajhg.2014.11.006
PMCID: PMC4289688

Genes

TUBB3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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