medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.1234/XXXX-XXXX-2015-10-46-48medgen-62Research ArticleОПИСАНИЕ КЛИНИЧЕСКОГО СЛУЧАЯКлинический случай новой мутации в гене GDAP1 в семье с наследственной моторно-сенсорной нейропатией 2КClinical case of the new mutation in the GDAP1 gene in the family with hereditary motor-sensory neuropathy 2KСайфуллинаЕ. В.SaifullinaE. V.riledin@mail.ruХидиятоваИ. М.KhidiyatovaI. M.noemail@neicon.ruМагжановР. В.MagzhanovR. V.noemail@neicon.ruСкачковаИ. А.SkachkovaI. A.noemail@neicon.ruХуснутдиноваЭ. К.KhusnutdinovaE. K.noemail@neicon.ruБашкирский государственный медицинский университетРоссияBashkir State Medical UniversityRussian FederationИнститут биохимии и генетики Уфимского научного центра Российской академии наукРоссияInstitute of Biochemistry and GeneticsRussian Federation20151606201614104648Copyright © Сайфуллина Е.В., Хидиятова И.М., Магжанов Р.В., Скачкова И.А., Хуснутдинова Э.К., 20162016Сайфуллина Е.В., Хидиятова И.М., Магжанов Р.В., Скачкова И.А., Хуснутдинова Э.К.Saifullina E.V., Khidiyatova I.M., Magzhanov R.V., Skachkova I.A., Khusnutdinova E.K.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/62

Описываются особенности клинического проявления заболевания у пациентов из семьи русской этнической принадлежности, проживающей в Республике Башкортостан, с доминантной наследственной моторно-сенсорной нейропатией (НМСН), обусловленной новой мутацией в гене GDAP1 : с.934G>A (p.Ala312Thr). По основным характеристикам болезни: возрасту манифестации (2-я декада жизни), медленному прогрессированию, более мягкому течению (по сравнению с частой рецессивной формой НМСН4А) и преимущественно аксональному поражению нервных волокон, - заболевание соответствует известной аутосомно-доминантной форме НМСН2К. Особенностью течения заболевания является выраженный внутрисемейный клинический полиморфизм по возрасту манифестации и степени выраженности симптоматики.

The clinical features of the disease in patients from a Russian family with the dominant hereditary motor and sensory neuropathy (HMSN) due to the new mutation in the GDAP1 gene: s.934G> A (p.Ala312Thr) are described in this article. The main characteristics of the disease: age of onset (2 decade of life), slow progression, mild clinical symptoms (compared to frequent recessive form HMSN4A) and predominantly axonal lesion of the nerve fibers correspond to known form - HMSN2K.

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The authors declare that there are no conflicts of interest present.