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

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.