MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic

Khidiyatova, I. M.; Skachkova, I. A.; Сайфуллина, Е. В.; Magzhanov, R. V.; Schagina, O. A.; Зинченко, Р. А.; Petrin, A. N.; Хуснутдинова, Э. К.

doi:10.1134/s1022795413060045

Cited by 5 publications

(5 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Genetic evaluation showed 6 mutations in MFN2 (p.Arg259His; p.Ala100Phe; p.Arg280His; p.Met747Thr; p.Ala738Val; p.Arg94Gln), 4 mutations in HSPB1 (p.Arg140Gly; p.Thr180Ile; p.Arg36Leu; p.Pro7Arg), 2 mutations in BSCL2 (p.N88S; p.S90L), 3 mutations in GJB1 (Arg220stop; p.Trp3Gly; p.Pro158Ala), 1 mutation in MPZ (p.Arg98His). Two mutations were novel while other variants have been already described [8,36,2,13,7,30,3,10,34,11,4,14,27,26]. The mutations not previously reported were excluded in 400 Italian normal control chromosomes.…”

Section: Resultsmentioning

confidence: 95%

Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience

Luigetti

Fabrizi

Bisogni

et al. 2016

Clinical Neurology and Neurosurgery

View full text Add to dashboard Cite

Section: Resultsmentioning

confidence: 95%

Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience

Luigetti

Fabrizi

Bisogni

et al. 2016

Clinical Neurology and Neurosurgery

View full text Add to dashboard Cite

“…RHDs vary in prevalence, locus, and allelic heterogeneity depending on the geographic region, which is associated with the specific genetic structure of the population. More than 20 rare genetic variants for Charcot-Marie-Tooth disease associated with different loci and represented by single families have been identified in different regions of Russia (Schagina et al, 2007;Khidiyatova et al, 2013;Dadali et al, 2016;Shchagina et al, 2018Shchagina et al, , 2020Murtazina et al, 2020).…”

Section: Resultsmentioning

confidence: 99%

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

Зинченко

Marakhonov

et al. 2021

Front. Genet.

View full text Add to dashboard Cite

The issue of point prevalence, cumulative prevalence (CP), and burden of rare hereditary diseases (RHD), comprising 72–80% of the group of rare diseases, is discussed in many reports and is an urgent problem, which is associated with the rapid progress of genetic technology, the identification of thousands of genes, and the resulting problems in society. This work provides an epidemiological analysis of the groups of the most common RHDs (autosomal dominant, autosomal recessive, and X-linked) and their point prevalence (PP) and describes the structure of RHD diversity by medical areas in 14 spatially remote populations of the European part of Russia. The total size of the examined population is about 4 million. A total of 554 clinical forms of RHDs in 10,265 patients were diagnosed. The CP for all RHDs per sample examined was 277.21/100,000 (1:361 people). It is worth noting that now is the time for characterizing the accumulated data on the point prevalence of RHDs, which will help to systematize our knowledge and allow us to develop a strategy of care for patients with RHDs. However, it is necessary to address the issues of changing current medical classifications and coding systems for nosological forms of RHDs, which have not kept pace with genetic advances.

show abstract

“…A heterozygous missense variant c.776 G > A in exon 5 of MFN2 was detected, which was not found in 300 normal controls and has been previously reported as pathogenic . This mutation replaces the amino acid arginine at codon 259 with histidine (p.R259H), probably resulting in alterations in the peptide and the spatial organization of the protein molecule.…”

Section: Resultsmentioning

confidence: 76%

“…Genetically, the c.776 G > A mutation in exon 5 of MFN2 has been previously reported to cause classical CMT2A . Another previous study indicated that a mutation located on exon 7 was associated with predominant sensation impairment .…”

Section: Discussionmentioning

confidence: 94%

Late‐onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum ofMFN2‐related diseases

Jun

Meng

et al. 2018

Neuropathology

View full text Add to dashboard Cite

Mutations in the Mitofusin 2 (MFN2) gene have been identified in patients with autosomal dominant axonal motor and sensory neuropathy or Charcot-Marie-Tooth 2A (CMT2A). Here we describe clinical and pathological changes in an adult patient with sporadic hereditary sensory and autonomic neuropathy (HSAN) due to an MFN2 mutation. The patient was a 53-year-old man who had sensory involvement and anhidrosis in all limbs without motor features. The electrophysiological assessment documented severe axonal sensory neuropathy. The sural nerve biopsy confirmed the electrophysiological findings, revealing severe loss of myelinated and unmyelinated fibers with regeneration clusters. Genetic analysis revealed the previously identified mutation c.776 G > A in MFN2. Our report expands the phenotypic spectrum of MFN2-related diseases. Sequencing of MFN2 should be considered in all patients presenting with late-onset HSAN.

show abstract

MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic

Cited by 5 publications

References 18 publications

Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience

Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

Late‐onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum ofMFN2‐related diseases

Contact Info

Product

Resources

About