ArticleAnnals of clinical and translational neurology2020
Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.
Article in Annals of clinical and translational neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 28 citations in OpenAlex.
- Expanding the Early Childhood Manifestations ofNeurology. Genetics · 2026Article
- Whole exome sequencing and cluster analysis reveal that EPB41L4A mutation may trigger tooth agenesis.PloS one · 2026Article
- Mitochondria-Associated Membranes: A Key Point of Neurodegenerative Diseases.CNS neuroscience & therapeutics · 2025Review
- Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.The Journal of experimental medicine · 2025Article
- Cellular Senescence Genes as Cutting-Edge Signatures for Abdominal Aortic Aneurysm Diagnosis: Potential for Innovative Therapeutic Interventions.Journal of cellular and molecular medicine · 2025Article
- IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta.PLoS genetics · 2025Article
- Two cases of combined immunodeficiency with ITPR3 mutations presenting with life-threatening severe EBV-associated hemophagocytic lymphohistiocytosis.Frontiers in immunology · 2025Article
- ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.European journal of neurology · 2024Article
- A pleiotropic recurrent dominantScience advances · 2024Article
- Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.Brain : a journal of neurology · 2024Article
- Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus.Cell reports. Medicine · 2024Article
- Dominant Mutation in ITPR3 Gene Causing Charcot-Marie-Tooth Disease 1J in a Family from India.Annals of Indian Academy of Neurology · 2024Article
- Identification and verification of autophagy-related gene signatures and their association with immune infiltration and drug responsiveness in epilepsy.Frontiers in neurology · 2024Article
- Type 3 IP3 receptor: Its structure, functions, and related disease implications.Channels (Austin, Tex.) · 2023Review
- Disrupted CaCellular & molecular immunology · 2023Article
- Missense mutations in inositol 1,4,5-trisphosphate receptor type 3 result in leaky CaiScience · 2022Article
- Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.Annals of clinical and translational neurology · 2022Article
- The discovery and development of IP3 receptor modulators: an update.Expert opinion on drug discovery · 2021Article
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Authors and funding
17 authors at 8 institutions in 5 countries.
Funding
Abstract
objectiveITPR3, encoding inositol 1,4,5-trisphosphate receptor type 3, was previously reported as a potential candidate disease gene for Charcot-Marie-Tooth neuropathy. Here, we present genetic and functional evidence that ITPR3 is a Charcot-Marie-Tooth disease gene.
methodsWhole-exome sequencing of four affected individuals in an autosomal dominant family and one individual who was the only affected individual in his family was used to identify disease-causing variants. Skin fibroblasts from two individuals of the autosomal dominant family were analyzed functionally by western blotting, quantitative reverse transcription PCR, and Ca
resultsAffected individuals in the autosomal dominant family had onset of symmetrical neuropathy with demyelinating and secondary axonal features at around age 30, showing signs of gradual progression with severe distal leg weakness and hand involvement in the proband at age 64. Exome sequencing identified a heterozygous ITPR3 p.Val615Met variant segregating with the disease. The individual who was the only affected in his family had disease onset at age 4 with demyelinating neuropathy. His condition was progressive, leading to severe muscle atrophy below knees and atrophy of proximal leg and hand muscles by age 16. Trio exome sequencing identified a de novo ITPR3 variant p.Arg2524Cys. Altered Ca
interpretationTogether with two previously identified variants, our report adds further evidence that ITPR3 is a disease-causing gene for CMT and indicates altered Ca
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