What question did this study set out to answer?

This research aims to identify the genetic cause of Gillespie syndrome in a family and correlate phenotype with genotype.

June 3, 2026

Gillespie syndrome caused by a novel ITPR1 gene variant: a phenotype-genotype correlation

Key Points

This research aims to identify the genetic cause of Gillespie syndrome in a family and correlate phenotype with genotype.
Retrospective chart review of a single family pedigree.
Complete ophthalmic examinations of three pediatric patients and one parent.
Molecular genetic testing performed where clinically indicated.
All three siblings and their father exhibited characteristic iris hypoplasia, confirming Gillespie syndrome.
Identification of a novel ITPR1 gene variant associated with the syndrome.
Clinical and molecular analyses underscored the importance of the identified variant.

Abstract

BACKGROUND: gene causing Gillespie syndrome in multiple members of a family. MATERIALS AND METHODS: A retrospective chart review of a single pedigree was performed. Three pediatric patients and a parent underwent complete ophthalmic examinations. Molecular genetic testing was pursued where clinically indicated. RESULTS: variant. On ophthalmic examination, all three siblings and their father had characteristic iris hypoplasia confirming the diagnosis of Gillespie syndrome. CONCLUSIONS: gene causing Gillespie syndrome in the described family. Clinical and molecular analyses and their correlation helped to establish the clinical relevance of this variant.

Gillespie syndrome caused by a novel ITPR1 gene variant: a phenotype-genotype correlation

Key Points

Abstract

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