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

Autor: Muñoz Cardona ML; Department of Neuro-ophthalmology, Universidad de Antioquia, Medellín, Colombia., López Mahecha JM; Department of Ophthalmology, Universidad de Antioquia, Medellín, Colombia.
Jazyk: angličtina
Zdroj: Neuro-ophthalmology (Aeolus Press) [Neuroophthalmology] 2021 Oct 13; Vol. 46 (3), pp. 186-189. Date of Electronic Publication: 2021 Oct 13 (Print Publication: 2022).
DOI: 10.1080/01658107.2021.1982991
Abstrakt: 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.
Competing Interests: The authors reveal they have no conflict of interests. This report was not financed by any organisation.
(© 2021 Taylor & Francis Group, LLC.)
Databáze: MEDLINE
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