Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

ITPR1: The missing gene in miosis-ataxia syndrome?

American journal of medical genetics. Part A - 1 Sept 2024

Chesneau Bertrand, Calvas Patrick, Cassagne Myriam, Varenne Fanny, Rozet Jean-Michel, Bonneville Fabrice, Chassaing Nicolas, Fournié Pierre, Fares-Taie Lucas, Plaisancié Julie

Abstract excerpt

The association of early-onset non-progressive ataxia and miosis is an extremely rare phenotypic entity occasionally reported in the literature. To date, only one family (two siblings and their mother) has benefited from a genetic diagnosis by the identification of a missense heterozygous variant (p.Arg36Cys) in the ITPR1 gene. This gene encodes the inositol 1,4,5-trisphosphate receptor type 1, an intracellular...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Inositol 1,4,5-Trisphosphate Receptors
Share to Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ataxia

Share to Heterozygote

Share to Intellectual Disability

Share to Mutation, Missense

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 38711238
DOI: 10.1002/ajmg.a.63655

Provenance

PubMed metadata and Literature Corpus relationships.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ITPR1: The missing gene in miosis-ataxia syndrome?PMID 38711238Read ↗

Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review.Semantic proximity Read ↗

Insights into heterozygous ITPR1 variants associated with ataxia and miosisSemantic proximity Read ↗

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.Semantic proximity Read ↗

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.Semantic proximity Read ↗

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.Semantic proximity Read ↗

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.Semantic proximity Read ↗

A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.Semantic proximity Read ↗

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.Semantic proximity Read ↗

A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia.Semantic proximity Read ↗

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.Semantic proximity Read ↗

[Diagnosis of a patient with Spinocerebellar ataxia type 29 due to a novel variant of ITPR1 gene].Semantic proximity Read ↗

Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.