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Gillespie's Syndrome Phenotype in A Patient with a Homozygous Variant of Uncertain Significance in the ITPR1 Gene.

ABSTRACT: A 10-year-old girl presented with left-eye esotropia and fixed mydriasis. Previously, she had been diagnosed with cerebellar ataxia and mild intellectual disability. Her parents were healthy. She was found to have partial aniridia of the pupillary sphincter bilaterally. A next-generation sequencing test for the inositol 1,4,5-trisphosphate type 1 receptor (ITPR1) gene was performed, revealing a previously unreported homozygous variant of uncertain significance at c.7610. Computational (In Silico) predictive models predicted this variant to be disease causing. With the arrival of DNA sequencing, aniridia can be genetically classified. In this case report, we present a patient with phenotypic features of Gillespie's syndrome with a homozygous variant in the ITPR1 gene that has not previously been reported.

SUBMITTER: Munoz Cardona ML

PROVIDER: S-EPMC9103597 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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Gillespie's Syndrome Phenotype in A Patient with a Homozygous Variant of Uncertain Significance in the ITPR1 Gene.

Muñoz Cardona Marta Lucía ML López Mahecha Jorge Mario JM

Neuro-ophthalmology (Aeolus Press) 20211013 3

A 10-year-old girl presented with left-eye esotropia and fixed mydriasis. Previously, she had been diagnosed with cerebellar ataxia and mild intellectual disability. Her parents were healthy. She was found to have partial aniridia of the pupillary sphincter bilaterally. A next-generation sequencing test for the inositol 1,4,5-trisphosphate type 1 receptor (ITPR1) gene was performed, revealing a previously unreported homozygous variant of uncertain significance at c.7610. Computational (In Silico ...[more]

PMID: 35574166

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