|
Gillespie syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
In total, these results demonstrate biallelic and monoallelic ITPR1 mutations as the underlying genetic defects for Gillespie syndrome, further extending the spectrum of ITPR1-related diseases.
|
27108797 |
2016 |
|
Gillespie syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
We performed next generation sequencing in two simplex families with Gillespie syndrome and identified de novo pathological mutations localized in the C-terminal channel domain of ITPR1 in both patients: a recurrent deletion (p.Lys2596del) and a novel missense mutation (p.Asn2576Ile) close to a point of constriction in the Ca<sup>2+</sup> pore.
|
28698159 |
2017 |
|
Gillespie syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the IP3R1 gene in humans may cause Gillespie syndrome (GS) typically presents as fixed dilated pupils in affected infants, which was referred to as iris hypoplasia.
|
31391379 |
2020 |
|
Gillespie syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
The novel autosomal recessive mutation here reported is the first variant affecting the ITPR1 N-terminal suppressor domain, thus extending the spectrum of the pathogenetic variants in GLSP and the range of the associated clinical manifestations.
|
29663667 |
2018 |
|
Gillespie syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review.
|
31340402 |
2019 |
|
Gillespie syndrome
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
|
27062503 |
2017 |
|
Gillespie syndrome
|
0.780 |
GeneticVariation
|
disease |
UNIPROT |
In total, these results demonstrate biallelic and monoallelic ITPR1 mutations as the underlying genetic defects for Gillespie syndrome, further extending the spectrum of ITPR1-related diseases.
|
27108797 |
2016 |
|
Gillespie syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features.
|
30249237 |
2018 |
|
Gillespie syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
This analysis supports a dominant-negative mechanism for GS variants in ITPR1.
|
27108798 |
2016 |
|
Gillespie syndrome
|
0.780 |
GeneticVariation
|
disease |
UNIPROT |
This analysis supports a dominant-negative mechanism for GS variants in ITPR1.
|
27108798 |
2016 |
|
SPINOCEREBELLAR ATAXIA 29
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.
|
26770814 |
2016 |
|
SPINOCEREBELLAR ATAXIA 29
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
|
28659154 |
2017 |
|
SPINOCEREBELLAR ATAXIA 29
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
|
22986007 |
2012 |
|
SPINOCEREBELLAR ATAXIA 29
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Whole exome sequencing identified a novel missense variant (c.106C>T; p.[Arg36Cys]) in the suppressor domain of type 1 inositol 1,4,5-trisphosphate receptor gene (ITPR1) as the cause of the disorder, resulting in a molecular diagnosis of spinocerebellar ataxia type 29.
|
28620721 |
2017 |
|
SPINOCEREBELLAR ATAXIA 29
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
|
26257172 |
2015 |
|
SPINOCEREBELLAR ATAXIA 29
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
|
22986007 |
2012 |
|
SPINOCEREBELLAR ATAXIA 29
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
In sum, these findings show that de novo ITPR1 missense variants are a recurrent cause of EOA (SCA29) across independent cohorts, acting via loss of IP3 channel function.
|
29925855 |
2018 |
|
SPINOCEREBELLAR ATAXIA 29
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Cerebellar vermis aplasia (ACV, OMIM 117360) is a rare malformation of the cerebellum, with only few familial patients reported so far.
|
15940696 |
2005 |
|
SPINOCEREBELLAR ATAXIA 29
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
|
27062503 |
2017 |
|
SPINOCEREBELLAR ATAXIA 15
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
We show here that heterozygous deletion of the 5' part of the ITPR1 gene, encompassing exons 1-10, 1-40, and 1-44 in three studied families, underlies SCA15 in humans.
|
17590087 |
2007 |
|
SPINOCEREBELLAR ATAXIA 15
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
|
27062503 |
2017 |
|
SPINOCEREBELLAR ATAXIA 15
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
We also present a novel SCA15 phenotype in a woman with an ITPR1 variant found to have hydrocephalus that improved with ventriculoperitoneal shunting.
|
27908616 |
2017 |
|
SPINOCEREBELLAR ATAXIA 15
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description.
|
20669319 |
2010 |
|
SPINOCEREBELLAR ATAXIA 15
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.
|
18579805 |
2008 |
|
SPINOCEREBELLAR ATAXIA 15
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
We show here that heterozygous deletion of the 5' part of the ITPR1 gene, encompassing exons 1-10, 1-40, and 1-44 in three studied families, underlies SCA15 in humans.
|
17590087 |
2007 |