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Stendel, C.* ; Wagner, M. ; Rudolph, G.* ; Klopstock, T.*

Gillespie's syndrome with minor cerebellar involvement and no intellectual disability associated with a novel ITPR1 mutation: Report of a case and literature review.

Neuropediatrics 50, 382-386 (2019)
Postprint DOI PMC
Open Access Green
Variants in the inositol 1,4,5-trisphosphate receptor type 1 ( ITPR1 ) gene have been recently identified as a cause of Gillespie's syndrome, a rare inherited condition characterized by bilateral iris hypoplasia, congenital muscle hypotonia, nonprogressive cerebellar ataxia, and intellectual disability. Here, we describe the clinical and genetic findings in a patient who presented with iris hypoplasia, mild gait ataxia, atrophy of the anterior cerebellar vermis but no cognitive deficits. Whole-exome sequencing (WES) uncovered a heterozygous ITPR1 p.Glu2094Lys missense variant, affecting a highly conserved glutamic acid residue for which other amino acid substitutions have already been reported in Gillespie's syndrome patients. Our data expand both the phenotypic and genetic spectrum associated with Gillespie's syndrome and suggest a mutation hotspot on Glu2094.
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Publication type Article: Journal article
Document type Review
Corresponding Author
Keywords Itpr1 ; Gillespie's Syndrome ; Ataxia ; Cerebellar Atrophy ; Aniridia ; Intellectual Disability; Ataxia
ISSN (print) / ISBN 0174-304X
e-ISSN 1439-1899
Journal Neuropediatrics
Quellenangaben Volume: 50, Issue: 6, Pages: 382-386 Article Number: , Supplement: ,
Publisher Thieme
Publishing Place Rudigerstr 14, D-70469 Stuttgart, Germany
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
Institute of Neurogenomics (ING)