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.

KEYWORDS:

• Aniridia
• Gillespie syndrome
• cerebellar ataxia
• ITPR1 gene

Declaration of interest statement

The authors reveal they have no conflict of interests. This report was not financed by any organisation.

Patient consent and ethics statement

The patient’s parents consented to the publication of this case report.

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Funding

The authors reported there is no funding associated with the work featured in this article.