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Article

Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant.

European journal of medical genetics - 1 Mar 2018

Carvalho Daniel R, Medeiros João Eugenio G, Ribeiro Daniela Sebestyan M, Martins Bernardo J A F, Sobreira Nara L M

Abstract excerpt

Gillespie syndrome (GS) [MIM: 206700] is a very rare condition characterized by bilateral iris defect, congenital hypotonia, cerebellar ataxia and intellectual disability. The typical iris anomaly is considered necessary to the diagnosis of GS. Recently, variants in ITPR1 were described causing GS. Non-neurological features were reported in few patients. Here we describe two consanguineous siblings with GS and a...

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Source

Identifiers

PMID: 29169895
DOI: 10.1016/j.ejmg.2017.11.005

Genes

ITPR1

Provenance

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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