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

dc.contributor.authorde Silva, D.
dc.contributor.authorWilliamson, K.A.
dc.contributor.authorDayasiri, K.C.
dc.contributor.authorSuraweera, N.
dc.contributor.authorQuinters, V.
dc.contributor.authorAbeysekara, H.
dc.contributor.authorWanigasinghe, J.
dc.contributor.authorde Silva, D.
dc.contributor.authorde Silva, H.
dc.date.accessioned2019-01-02T07:17:39Z
dc.date.available2019-01-02T07:17:39Z
dc.date.issued2018
dc.descriptionIndexed In MEDLINEen_US
dc.description.abstractBACKGROUND: 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.en_US
dc.identifier.citationBMC pediatrics.2018;18(1):308en_US
dc.identifier.issn1471-2431 (Electronic)
dc.identifier.issn1471-2431 (Linking)
dc.identifier.urihttp://repository.kln.ac.lk/handle/123456789/19247
dc.language.isoen_USen_US
dc.publisherBioMed Centralen_US
dc.subjectGillespie syndromeen_US
dc.titleGillespie 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 featuresen_US
dc.typeArticleen_US

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