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Article

Describing the First Canadian Cohort of Oculogastrointestinal Neurodevelopmental Syndrome Caused by CAPN15 Pathogenic Variants.

American journal of medical genetics. Part A - 1 Oct 2025

Lin Eric, Cruz-Marino Tania, Chrestian Nicolas, Leblanc Josianne, Rioux Nadie, Labrie Yvan, Rivest Serge, Lace Baiba, Colaiacovo Samantha, Saleh Maha

Abstract excerpt

Oculogastrointestinal neurodevelopmental syndrome (OGIN; OMIN #619318) is a rare autosomal recessive disorder resulting from pathogenic variants in the CAPN15 gene. OGIN syndrome has been previously seen to affect many different body systems and has been described to cause coloboma, imperforate anus, structural cardiac defects, and horseshoe kidneys. There is still little information about the phenotypic spectrum...

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Source

Identifiers

PMID: 40485323
DOI: 10.1002/ajmg.a.64133

Genes

CAPN15

Variants

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