ArticleEuropean journal of human genetics : EJHG2009
A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 66 citations in OpenAlex.
- De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.European journal of human genetics : EJHG · 2019Trial
- Using RNA-targeting CRISPR-Cas13 and engineered U1 systems to targetMolecular therapy. Nucleic acids · 2026Article
- An exploratory exome-wide machine learning analysis identifies candidate host gene signatures associated with Long COVID in a large admixed Brazilian cohort.Frontiers in medicine · 2026Article
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- Clinical report and genetic analysis of a Chinese family with retinitis pigmentosa 79 caused by a novel loss-of-function HK1 variant.Genes & genomics · 2024Article
- TheInternational journal of molecular sciences · 2024Article
- Rapid degeneration of iPSC-derived motor neurons lacking Gdap1 engages a mitochondrial-sustained innate immune response.Cell death discovery · 2023Article
- Expanding the Molecular Spectrum ofArchives of Iranian medicine · 2023Article
- A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome.American journal of medical genetics. Part A · 2023Article
- Traumatic and Diabetic Schwann Cell Demyelination Is Triggered by a Transient Mitochondrial Calcium Release through Voltage Dependent Anion Channel 1.Biomedicines · 2022Article
- Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease.BMC medical genomics · 2021Article
- Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa.Human molecular genetics · 2018Article
- Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.BMJ open · 2018Article
- Article
- Blocking mitochondrial calcium release in Schwann cells prevents demyelinating neuropathies.The Journal of clinical investigation · 2016Article
- Hexokinase 1 and retinitis pigmentosa: insights into the retina and the molecule.Investigative ophthalmology & visual science · 2014Article
- A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.Investigative ophthalmology & visual science · 2014Article
- A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.Investigative ophthalmology & visual science · 2014Article
- Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.Journal of applied genetics · 2013Article
- Charcot-Marie-Tooth disease and intracellular traffic.Progress in neurobiology · 2012Review
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary Motor and Sensory Neuropathy -- Russe (HMSNR) is a severe autosomal recessive disorder, identified in the Gypsy population. Our previous studies mapped the gene to 10q22-q23 and refined the gene region to approximately 70 kb. Here we report the comprehensive sequencing analysis and fine mapping of this region, reducing it to approximately 26 kb of fully characterised sequence spanning the upstream exons of Hexokinase 1 (HK1). We identified two sequence variants in complete linkage disequilibrium, a G>C in a novel alternative untranslated exon (AltT2) and a G>A in the adjacent intron, segregating with the disease in affected families and present in the heterozygote state in only 5/790 population controls. Sequence conservation of the AltT2 exon in 16 species with invariable preservation of the G allele at the mutated site, strongly favour the exonic change as the pathogenic mutation. Analysis of the Hk1 upstream region in mouse mRNA from testis and neural tissues showed an abundance of AltT2-containing transcripts generated by extensive, developmentally regulated alternative splicing. Expression is very low compared with ubiquitous Hk1 and all transcripts skip exon1, which encodes the protein domain responsible for binding to the outer mitochondrial membrane, and regulation of energy production and apoptosis. Hexokinase activity measurement and immunohistochemistry of the peripheral nerve showed no difference between patients and controls. The mutational mechanism and functional effects remain unknown and could involve disrupted translational regulation leading to increased anti-apoptotic activity (suggested by the profuse regenerative activity in affected nerves), or impairment of an unknown HK1 function in the peripheral nervous system (PNS).
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