New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2

Дадали, Е. Л.; Шаркова, И. В.; Никитин, С. С.; Коновалов, Ф. А.

doi:10.17650/2222-8721-2016-6-2-52-57

Cited by 1 publication

(1 citation statement)

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“…(6) Previously it was believed that the described variant of the genetic mutation in the IGHMBP2 gene leads to the emergence of only spinal muscular atrophy with diaphragm paralysis (OMIM: 604320). (7) However, in 2014, cases of patients from England, America, Serbia, Poland, Italy, Korea, and Vietnam were first described with a mutation in the same gene leading to the clinical presentation of HSMN2S (OMIM: 616155). (8) The young man turned to the doctor with complaints of a breathing disorder, which is typical for the clinical picture of spinal muscular atrophy with diaphragm paralysis.…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Charcot-Mari-Tooth Disease Type 2S in a 20-year-old Man

Shnayder¹,

Petryaeva²,

Artyuhov³

et al. 2017

IJBM

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Charcot-Marie-Tooth disease type 2 (CMT2S) is rare form of Charcot-Marie-Tooth disease (CMT) that is characterized by a mutation in the IGHMBP2 gene. This gene encodes a helicase superfamily member that binds a specific DNA sequence from the region of the immunoglobulin mu chain switch. Mutation of this gene leads to spinal muscle atrophy with respiratory distress type 1 and CMT2S. This case report presents a 20-year-old male with genetically confirmed CMT2S having clinical respiratory involvement and symmetrically involved lower extremities. DNA sequencing revealed a previously unknown heterozygous mutation in the exone 2 of the IGHMBP2 gene leading to the replacement of the amino acid in the 46 position of the protein (chr11q13.3: 68673587 G>C). These atypical features widen the clinical spectrum of CMT2S. This is the first described case of a previously unknown mutation in the Russian population with confirmation of its genetic study. In describing this clinical case, we also improve diagnostic management and try to increase the alertness of various doctors towards neuromuscular diseases, including CMT. (International Journal of Biomedicine. 2017;7(4):324-326.)

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Section: Discussionmentioning

confidence: 99%