ArticleMolecular biology reports2020
HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients.
Article in Molecular biology reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 20 citations in OpenAlex.
- The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.International journal of molecular sciences · 2024Review
- Genetic Landscape ofFrontiers in genetics · 2024Article
- The Many Faces of Histidine Triad Nucleotide Binding Protein 1 (HINT1).ACS pharmacology & translational science · 2023Review
- Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles.Frontiers in neurology · 2023Article
- The most common European HINT1 neuropathy variant phenotype and its case studies.Frontiers in neurology · 2023Article
- HINT1 neuropathy: Expanding the genotype and phenotype spectrum.Clinical genetics · 2022Review
- HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.Orphanet journal of rare diseases · 2022Article
- Protein network analysis to prioritize key genes in amyotrophic lateral sclerosis.IBRO neuroscience reports · 2022Article
- Rare among Rare: Phenotypes of Uncommon CMT Genotypes.Brain sciences · 2021Article
- HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report.Molecular genetics & genomic medicine · 2021Article
- HINT1 neuropathy in Norway: clinical, genetic and functional profiling.Orphanet journal of rare diseases · 2021Article
- Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence.Frontiers in genetics · 2021Article
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Authors and funding
7 authors at 1 institution in 1 country.
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Abstract
Pathogenic variants in the HINT1 gene lead to hereditary axonopathy with neuromyotonia. However, many studies show that neuromyotonia may remain undiagnosed, while axonopathy is the major clinical finding. The most common cause of neuromyotonia and axonopathy, especially in patients of Slavic origin, is a c.110G>C (p.Arg37Pro) pathogenic variant in homozygous or compound heterozygous state. In this study, we analyzed a peripheral neuropathy caused by pathogenic variants in the HINT1 gene and evaluated its contribution to the hereditary neuropathy structure. The studied group included 1596 non-related families diagnosed with hereditary motor and sensory neuropathy (HMSN). The results show that HINT1 gene pathogenic variants make a significant contribution to the hereditary neuropathy epidemiology in Russian patients. They account for at least 1.9% of all HMSN cases and 9% of axonopathy cases. The most common HINT1 pathogenic variant in Russian patients is the c.110G>C (p.Arg37Pro) substitution. Its allelic frequency is 0.2% (95% CI 0.19-0.21%), carrier frequency is 1 in 250 people in Russian Federation, and the estimated disease incidence is 1 in 234,000 individuals. It was determined that the cause of this pathogenic variant's prevalence is the founder effect.
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