Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press11010.17650/2222-8721-2015-1-48-54CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРA familial case of segregation of motor sensory neuropathy type 1B with multiple exostoses in monozygous twinsСемейный случай сегрегации наследственной моторно-сенсорной нейропатии 1В типа с множественными экзостозами у монозиготных близнецовFedotovV. P.ФедотовВалерий Павлович
Russian Federation

151, Moskovsky Pr., Voronezh 394066, Russia

Россия, 394066 Воронеж, Московский пр-т, 151

fed_val@list.ruKurbatovS. A.КурбатовС. А.
Russian Federation

5a, Lenin Sq., Voronezh 394000, Russia

Россия, 394000 Воронеж, пл. Ленина, 5а

NikitinS. S.НикитинС. С.
Russian Federation

8, Baltiyskaya St., Moscow 125315, Russia

Москва; Россия, 125315, Москва, ул. Балтийская, 8

MilovidovaT. B.МиловидоваТ. Б.
Russian Federation

1, Moskvorechye St., Moscow 115478, Russia

Москва; Россия, 115478, Москва, ул. Москворечье, 1

GaleevaN. M.ГалееваН. М.
Russian Federation

1, Moskvorechye St., Moscow 115478, Russia

Москва; Россия, 115478, Москва, ул. Москворечье, 1

PolyakovA. V.ПоляковА. В.
Russian Federation

1, Moskvorechye St., Moscow 115478, Russia

Москва; Россия, 115478, Москва, ул. Москворечье, 1

Voronezh Regional Clinical Hospital OneБУЗ ВО «Воронежская областная клиническая больница № 1»Voronezh Regional Clinical Counseling and Diagnostic CenterАУЗ ВО «Воронежский областной клинический консультативно-диагностический центр»Research Institute of General Pathology and PathophysiologyНИИ общей патологии и патофизиологииMedical Genetic Research CenterФГБУ «Медико-генетический научный центр»220520155148542205201522052015Copyright ©; 2015, Fedotov V.P., Kurbatov S.A., Nikitin S.S., Milovidova T.B., Galeeva N.M., Polyakov A.V.Copyright ©; 2015, Федотов В.П., Курбатов С.А., Никитин С.С., Миловидова Т.Б., Галеева Н.М., Поляков А.В.2015Fedotov V.P., Kurbatov S.A., Nikitin S.S., Milovidova T.B., Galeeva N.M., Polyakov A.V.Федотов В.П., Курбатов С.А., Никитин С.С., Миловидова Т.Б., Галеева Н.М., Поляков А.В.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/110

Hereditary motor-sensory neuropathy (MIM 118200) is a rare genetic variant of myelinopathy with autosomal-dominant type of inheritance. Multiple exostosis bones are signs of multiple exostoses chondrodysplasia, genetically heterogeneous form of systemic bone disease with an autosomal dominant mode of inheritance. The combination of two rare autosomal dominant diseases, affecting bone and peripheral nervous system in a pair of monozygotic twins and their father in one family, belongs to a unique clinical observations: since early childhood twins presented sharp reduction of the conduction velocity in all investigated motor nerves (>10 times) together with multiple exostosis bone, confirmed by x-ray with a relatively benign course. Similar manifestations were detected in the patients father. DNA analysis confirmed the presence of 2 separate mutations in 2 different genes, с.389А>G/N gene MPZ and c.678С>А/N EXT2 gene that was inherited autosomal dominant manner, independently of each members of the same family.

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