Family case of rare Charcot-Marie-Tooth 2P disease caused by LRSAM1 mutation

Introduction. Charcot-Marie-Tooth disease is clinical polymorphic and genetic heterogeneity group of peripheral nervous system disorders. Genetic counseling for CMT-families is a difficult problem for the doctor. Materials and methods. Autosomal dominant CMT-family from Samara was observed by сlinical, electrophysiological and molecular-genetic methods. Genetic research was performed by direct automatic sequencing of target genes and exome-sequencing on the IlluminaNextSeq 500 sequenator by method of pair and trailer reading (2kh75p.o) about use of the IlluminaTruSeq® ExomeKit set. Results. We identified a splice-site LRSAM1 gene mutation (c.2047-1G>A, p.Ala683ProfsX3). Today only 20 families with LRSAM1 mutations are described. The clinical features in this family is the late age of manifestation (on 4-5 decade of life), asymmetry of atrophy, the weak clinical manifestations and the slow. Conclusion. Genetic diagnostics for this CMT should be carried out by the NGS-methods. Genetic testing is the only way to determine the status of family members for the purpose of planning pre-conception prevention.

наследственная моторно-сенсорная нейропатия, LRSAM1, экзомное секвенирование, Charcot-Marie-Tooth disease, exome-sequencing, LRSAM1

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