Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press15510.17650/2222-8721-2016-6-2-52-57CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРNew allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2Новый аллельный вариант наследственной аутосомно-рецессивной моторно-сенсорной нейропатии 2S типа, обусловленный мутациями в гене IGHMBP2DadaliE. L.ДадалиЕ. Л.
Russian Federation
genclinic@yandex.ruSharkovaI. V.ШарковаИ. В.
Russian Federation
NikitinS. S.НикитинС. С.
Russian Federation
KonovalovF. A.КоноваловФ. А.
Russian Federation
Research Center of Medical GeneticsФБГНУ «Медико-генетический научный центр»1 Moskvorech’e St., Moscow, 115478, RussiaРоссия, 115478, Москва, ул. Москворечье, 1Medical Center “Practical Neurology”, Association of Neuromuscular Disorders SpecialistsРегиональная общественная организация «Общество специалистов по нервно-мышечным болезням», Медицинский центр «Практическая неврология»Build. 2, 17 Krzhizhanovskogo St., Moscow, 117258, RussiaРоссия, 117258, Москва, ул. Кржижановского, 17/2050720166252570507201605072016Copyright ©; 2016, Dadali E.L., Sharkova I.V., Nikitin S.S., Konovalov F.A.Copyright ©; 2016, Дадали Е.Л., Шаркова И.В., Никитин С.С., Коновалов Ф.А.2016Dadali E.L., Sharkova I.V., Nikitin S.S., Konovalov F.A.Дадали Е.Л., Шаркова И.В., Никитин С.С., Коновалов Ф.А.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/155

Hereditary motor and sensory neuropathy (HMSN, Charcot–Marie–Tooth disease) is a group of genetically heterogeneous disorders with more than 80 genes linked to different phenotypes, including IGHMBP2 gene responsible for HMSN type 2S (OMIM 616155). Until recently, mutations in IGHMBP2 were exclusively associated with neonatal distal spinal muscular atrophy with respiratory distress (SMARD1, OMIM 604320). A case report presents a boy with infant onset decreased distal muscle tone and weakness, distal wasting and deformation in legs and hands, areflexia and decreased sensation without respiratory involvement; at age seven he had severe fixed kypho-scoliosis. EMG revealed signs distal axonal neuropathy. The exsome sequencing confirmed the allelic variant of two compound heterozygous mutations in gene IGHMBP2: known missens mutation с.1616С>Т (р.Ser539Leu) in exone 11 and a novel deletion с.2601_2602delGA in exone 13. The diagnosis of infant HMSN type 2S was confirmed. The phenotype of HMSN type 2S and its diagnostics differences between SMARD1 are discussed.

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