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Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.

Human molecular genetics - 4 Nov 2020

Zha Congyao, Farah Carole A, Holt Richard J, Ceroni Fabiola, Al-Abdi Lama, Thuriot Fanny, Khan Arif O, Helaby Rana, Lévesque Sébastien, Alkuraya Fowzan S, Kraus Alison, Ragge Nicola K, Sossin Wayne S

Abstract excerpt

Microphthalmia, coloboma and cataract are part of a spectrum of developmental eye disorders in humans affecting ~12 per 100 000 live births. Currently, variants in over 100 genes are known to underlie these conditions. However, at least 40% of affected individuals remain without a clinical genetic diagnosis, suggesting variants in additional genes may be responsible. Calpain 15 (CAPN15) is an intracellular...

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Identifiers

PMID: 32885237
DOI: 10.1093/hmg/ddaa198
PMCID: PMC7645705

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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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