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Case Reports
. 2021 Oct 13;46(3):186-189.
doi: 10.1080/01658107.2021.1982991. eCollection 2022.

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

Marta Lucía Muñoz Cardona  1 , Jorge Mario López Mahecha  2
Affiliations
Case Reports

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

Marta Lucía Muñoz Cardona et al. Neuroophthalmology. .

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; ITPR1 gene; cerebellar ataxia.

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Conflict of interest statement

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

Figures

Figure 1.
Figure 1.
Partial aniridia can be observed in both eyes, with absence of the pupil margin and iris sphincter. In the left eye, iris threads can be observed in line with the anterior lens chamber.
Figure 2.
Figure 2.
T1-weighted sagittal brain magnetic resonance imaging. The cerebellar vermis is atrophic (blue arrow). No other structural anomalies can be observed.
See this image and copyright information in PMC

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