HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients

Щагина, О. А.; Миловидова, Т. Б.; Муртазина, А. Ф.; Rudenskaya, G. E.; Никитин, С. С.; Дадали, Е. Л.; Polyakov, A. V.

doi:10.1007/s11033-019-05238-z

Cited by 18 publications

(25 citation statements)

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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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“…La répartition sur le territoire russe des cas de CMT2 axonal porteurs la mutation fondatrice slave du gène HINT1 (d'après Shchagina et al, 2020).…”

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“…À notre décharge, cette nouvelle entité clinico-génétique, que l'on peut assimiler au groupe des neuromyotonies, n'a été formellement élucidée au niveau moléculaire qu'en 2012 [13]. Les premières descriptions les plus convaincantes de cette neuropathie rare remontent à Hahn en 1991 [4] même si d'autres auteurs avaient précédemment rapporté quelques observations similaires [3,6] [2,5,7,9]. L'évolution est très lentement progressive mais il existe des phénotypes plus sévères même avec un génotype identique.…”

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“…Myo-Skola, dont la prochaine édition aura lieu, si tout va bien, en octobre 2020 à Saint-Pétersbourg, a largement contribué à informer les cliniciens russes de l'existence cette forme originale de neuromyotonie dans le monde slave. La mutation fondatrice R37P s'est avérée, et c'est d'ailleurs logique, être une cause majeure de CMT2 axonal en Russie [9] (Figure 6). Les Russes ne sont d'ailleurs pas peu fiers de cette trouvaille, et c'est tant mieux !…”

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Chroniques russes...

Urtizberea

2020

Cah. Myol.

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“…Было выявлено по 1 случаю мутаций в других частых генах периферических нейропатий -GJB1 (НМСН IX), HINT1 (нейромиотония и аксональная нейропатия) [12,13]. Небольшая доля таких форм, выявленных при экзомном исследовании, объясняется тем, что НМСН, связанные с этими генами, имеют свои характерные особенности -Х-сцепленная родословная для GJB1 и миотонические феномены для HINT1, а гены имеют небольшой размер и доступно более дешевое их исследование методом секвенирования по Сенгеру.…”

Section: результатыunclassified

Diagnostic utility of exome sequencing for inherited peripheral neuropathies

Щагина

Рыжкова

Чухрова

et al. 2020

Neuromuscular Diseases

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Introduction. Hereditary motor and sensory neuropathies, a highly genetic heterogeneous group of disorders, have a phenotype caused by peripheral nerve damage.Purpose of the study – to assess the extent of genetic heterogeneity of hereditary motor and sensory neuropathies in Russian patients and to evaluate the diagnostic effectiveness of using full-exome research methods to find the genetic cause of hereditary motor and sensory neuropathies.Materials and methods. The material for the study was DNA samples from 51 patients and their family members referred for whole exome sequencing to the DNA-diagnostics laboratory of Research Centre for Medical Genetics in 2017–2019. Methods: whole exome sequencing, Sanger sequencing, restriction fragment length polymorphism.Results. Whole exome sequencing in combination with segregation analysis of the pathogenic variants in families allowed to determine the cause of the disease in 41 % of cases. In another 16 % of cases, candidate genetic variants as a possible cause of the disease were revealed, but additional studies are needed to confirm it. The most frequently mutated gene was MFN2 caused neuropathy in 6 unrelated families. MPZ gene mutations were detected in two families, AARS gene mutations were revealed in another two families, and mutations in GJB1, HINT1, INF2, LRSAM1, LITAF, MME, NEFL, WWOX were detected once. Among the causal variants, mutations in B4GALNT1 caused spastic paraplegia, in COL6A1 led to Bethlem’s congenital muscular dystrophy, and in SYT2 caused congenital myasthenic syndrome indicating difficulties in differential diagnosis of inherited neuromuscular disorders. A PMP22 duplication was detected in 2 families prior to whole exome sequencing.Conclusion. Whole exome sequencing is very important for finding the molecular cause of hereditary motor and sensory neuropathies. In most cases, additional methods should be used to clarify the pathogenicity of variants detected by whole exome sequencing. However, it is necessary to remember that the most common cause of the disease is a large duplication of the region 17p11.2.

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HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients

Cited by 18 publications

References 11 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

Chroniques russes...

Diagnostic utility of exome sequencing for inherited peripheral neuropathies

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