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

doi:10.1016/j.ejmg.2017.11.005

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

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 language	English (US)
Pages (from-to)	134-138
Number of pages	5
Journal	European Journal of Medical Genetics
Volume	61
Issue number	3
DOIs	https://doi.org/10.1016/j.ejmg.2017.11.005
State	Published - Mar 2018

Keywords

Aniridia
Cerebellar ataxia
Gillespie syndrome
ITPR1
Intellectual disability

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1016/j.ejmg.2017.11.005

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

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.",

keywords = "Aniridia, Cerebellar ataxia, Gillespie syndrome, ITPR1, Intellectual disability",

author = "Carvalho, {Daniel R.} and Medeiros, {Jo{\~a}o Eugenio G.} and Ribeiro, {Daniela Sebestyan M.} and Martins, {Bernardo J.A.F.} and Sobreira, {Nara L.M.}",

note = "Publisher Copyright: {\textcopyright} 2017 Elsevier Masson SAS",

year = "2018",

month = mar,

doi = "10.1016/j.ejmg.2017.11.005",

language = "English (US)",

volume = "61",

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journal = "European Journal of Medical Genetics",

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AU - Carvalho, Daniel R.

AU - Medeiros, João Eugenio G.

AU - Ribeiro, Daniela Sebestyan M.

AU - Martins, Bernardo J.A.F.

AU - Sobreira, Nara L.M.

PY - 2018/3

Y1 - 2018/3

N2 - 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.

AB - 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.

KW - Aniridia

KW - Cerebellar ataxia

KW - Gillespie syndrome

KW - ITPR1

KW - Intellectual disability

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JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 3

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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