Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients

Дадали, Е. Л.; Никитин, С.С.; Kurbatov, S. V.; Муртазина, А. Ф.; Шаркова, И. В.; Щагина, О. А.; Коновалов, Ф. А.

doi:10.17650/2222-8721-2017-7-3-47-55

Cited by 4 publications

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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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Urtizberea

2020

Cah. Myol.

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Urtizberea

2020

Cah. Myol.

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

et al. 2019

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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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Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients

Cited by 4 publications

References 16 publications

Chroniques russes...

Chroniques russes...

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

Diagnostic utility of exome sequencing for inherited peripheral neuropathies

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