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Open Access 01-12-2018 | Case report

Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features

Authors: Daham De Silva, Kathleen A. Williamson, Kavinda Chandimal Dayasiri, Nayani Suraweera, Vinushiya Quinters, Hiranya Abeysekara, Jithangi Wanigasinghe, Deepthi De Silva, Harendra De Silva

Published in: BMC Pediatrics | Issue 1/2018

Abstract

Background

Gillespie syndrome is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and heterozygous pathogenic variants of the ITPR1 gene encoding an inositol 1, 4, 5- triphosphate- responsive calcium channel have been identified in 13 patients recently. There have been 22 cases reported in the literature by 2016, mostly from the western hemisphere with none reported from Sri Lanka.

Case presentation

A 10-year-old girl born to healthy non-consanguineous parents with delayed development is described. She started walking unaided by 9 years with a significantly unsteady gait and her speech was similarly delayed. Physical examination revealed multiple cerebellar signs. Slit lamp examination of eyes revealed bilateral partial aniridia. Magnetic resonance imaging of brain at the age of 10 years revealed cerebellar (mainly vermian) hypoplasia. Genetic testing confirmed the clinical suspicion and demonstrated a heterozygous pathogenic variant c.7786_7788delAAG p.(Lys2596del) in the ITPR1 gene.

Conclusion

The report of this child with molecular confirmation of Gillespie syndrome highlights the need for careful evaluation of ophthalmological and neurological features in patients that enables correct clinical diagnosis. The availability of genetic testing enables more accurate counseling of the parents and patients regarding recurrence risks to other family members.

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Title: Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features
Authors: Daham De Silva
Kathleen A. Williamson
Kavinda Chandimal Dayasiri
Nayani Suraweera
Vinushiya Quinters
Hiranya Abeysekara
Jithangi Wanigasinghe
Deepthi De Silva
Harendra De Silva
Publication date: 01-12-2018
Publisher: BioMed Central
Published in: BMC Pediatrics / Issue 1/2018
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-018-1286-5

At a glance: The STEP trials

Springer Medicine

Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features

Abstract

Background

Case presentation

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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