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Article

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.

American journal of medical genetics. Part A - 1 Aug 2021

Keehan Laura, Jiang Ming-Ming, Li Xiaohui, Marom Ronit, Dai Hongzheng, Murdock David, Liu Pengfei, Hunter Jill V, Heaney Jason D, Robak Laurie, Emrick Lisa, Lotze Timothy, Blieden Lauren S, Lewis Richard Alan, Levin Alex V, Capasso Jenina, Craigen William J, Rosenfeld Jill A, Lee Brendan, Burrage Lindsay C

Abstract excerpt

Gillespie syndrome (GLSP) is characterized by bilateral symmetric partial aplasia of the iris presenting as a fixed and large pupil, cerebellar hypoplasia with ataxia, congenital hypotonia, and varying levels of intellectual disability. GLSP is caused by either biallelic or heterozygous, dominant-negative, pathogenic variants in ITPR1. Here, we present a 5-year-old male with GLSP who was found to have a...

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Identifiers

PMID: 33949769
DOI: 10.1002/ajmg.a.62232
PMCID: PMC8562426

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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