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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)

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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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