A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

doi:10.1093/brain/awae206

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

Community

Back to search

Article

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

Brain : a journal of neurology - 7 Jan 2025

Beijer Danique, Dohrn Maike F, Rebelo Adriana, Danzi Matt C, Grosz Bianca Rose, Ellis Melina, Kumar Kishore R, Vucic Steve, Vais Horia, Weissenrieder Jillian S, Lunko Olesia, Paudel Usha, Simpson Leah C, Camarena Vladimir, Raposo Jacquelyn, Saporta Mario, Arcia Yeisha, Xu Isaac, Feely Shawna, Record Christopher J, Blake Julian, Reilly Mary M, Scherer Steven S, Kennerson Marina, Lee Yi-Chung, Foskett J Kevin, Shy Michael E, Zuchner Stephan

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease is a neuromuscular disorder affecting the peripheral nervous system. The diagnostic yield in demyelinating CMT (CMT1) is typically ∼80%-95%, of which at least 60% is due to the PMP22 gene duplication. The remainder of CMT1 is more genetically heterogeneous. We used whole exome and whole genome sequencing data included in the GENESIS database to investigate novel causal genes and...

Read the complete abstract on PubMed

Topics

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

Share to Charcot-Marie-Tooth Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Child

Share to Demyelinating Diseases

Share to Inositol 1,4,5-Trisphosphate Receptors

Share to Mutation, Missense

Share to Pedigree

Share to Severity of Illness Index

Share to Young Adult

Source

Open in PubMed

Identifiers

PMID: 38938188
DOI: 10.1093/brain/awae206

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.PMID 38938188Read ↗

Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.Semantic proximity Read ↗

ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.Semantic proximity Read ↗

Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.Semantic proximity Read ↗

Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients.Semantic proximity Read ↗

Whole-exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot-Marie-Tooth neuropathy type 2U.Semantic proximity Read ↗

Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry.Semantic proximity Read ↗

Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of <i>PMP22</i> VariantsSemantic proximity Read ↗

Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.Semantic proximity Read ↗

Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot-Marie-Tooth Disease.Semantic proximity Read ↗

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