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

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

Research output: Contribution to journalArticlepeer-review

Abstract

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 novel homozygous ITPR1 pathogenic variant (p.N984fs). They also present a cardiac defect (pulmonary valve stenosis) and one sib had a genitourinary malformation (ureteropelvic junction obstruction). Our report reinforces ITPR1 as the cause of GS and suggests a possible role of ITPR1 in the development of other organs.

Original languageEnglish (US)
Pages (from-to)134-138
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume61
Issue number3
DOIs
StatePublished - Mar 2018

Keywords

  • Aniridia
  • Cerebellar ataxia
  • Gillespie syndrome
  • ITPR1
  • Intellectual disability

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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