Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia

Дадали, Е. Л.; Макаов, А. Х.-М.; Галкина, В. А.; Коновалов, Ф. А.; Поляков, А. В.; Булах, М. В.; Зинченко, Р. А.

doi:10.17650/2222-8721-2016-6-2-47-51

Cited by 2 publications

(1 citation statement)

References 6 publications

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“…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.

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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.

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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.

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Clinical Population Genetics of Hereditary Diseases among Children of the Karachay-Cherkess Republic

et al. 2019

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Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia

Abstract: 1 Ostrovityanova St., Moscow, 117997, Russia; 3 Khabez Central District Hospital; 6 Bol'nichnaya St., Khabez Aul, Khabez District, Karachai-Cherkess Republic, 369400, Russia; 4 OOO "Genomed"; Build. 5, 8 Podol'skoye Shosse, Moscow, 115093

Cited by 2 publications

References 6 publications

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

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

Clinical Population Genetics of Hereditary Diseases among Children of the Karachay-Cherkess Republic

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