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

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 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,...

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Bibliographic Details
Main Authors: Daham De Silva, Kathleen A. Williamson, Kavinda Chandimal Dayasiri, Nayani Suraweera, Vinushiya Quinters, Hiranya Abeysekara, Jithangi Wanigasinghe, Deepthi De Silva, Harendra De Silva
Format: Article
Language:English
Published: BMC 2018-09-01
Series:BMC Pediatrics
Subjects:
Gillespie syndrome
Partial aniridia
Cerebellar hypoplasia
ITPR1 gene
Online Access:http://link.springer.com/article/10.1186/s12887-018-1286-5

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http://link.springer.com/article/10.1186/s12887-018-1286-5

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