Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press40010.17650/2222-8721-2020-10-3-74-79CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРClinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317)Клинико-генетические характеристики двух российских больных с аутосомно-рецессивной микроцефалией 2-го типа, обусловленной мутациями в гене WDR62 (OMIM: 604317)https://orcid.org/0000-0003-3761-8595GusevaD. M.ГусеваД. М.
Russian Federation

1 Moskvorech’e St., Moscow 115522

Дарья Михайловна Гусева 

115522 Москва, ул. Москворечье, 1

guseva@med-gen.ruhttps://orcid.org/0000-0001-5602-2805DadaliE. L.ДадалиЕ. Л.
Russian Federation

1 Moskvorech’e St., Moscow 115522

115522 Москва, ул. Москворечье, 1

Research Centre for Medical Genetics named after academician N.P. BochkovФГБНУ «Медико-генетический научный центр им. академика Н.П. Бочкова»0612202010374790612202006122020Copyright ©; 2020, Guseva D.M., Dadali E.L.Copyright ©; 2020, Гусева Д.М., Дадали Е.Л.2020Guseva D.M., Dadali E.L.Гусева Д.М., Дадали Е.Л.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/400

The article describes the clinical and genetic characteristics of 2 patients from Russia with autosomal recessive primary microcephaly type 2, caused by previously described and newly identified mutations in the WDR62 gene. The data obtained the support the hypothesis that there are no clear correlations between the type and location of the mutation and the severity of clinical manifestations of the disease. There is discussed the possible influence of a mutation in the WDR62 gene on the occurrence of a fibrillar astrocytoma.

Представлено описание клинико-генетических характеристик 2 российских больных с аутосомно-рецессивной первичной микроцефалией 2-го типа, обусловленной ранее описанными и вновь выявленными мутациями в гене WDR62. Полученные данные свидетельствуют в пользу гипотезы об отсутствии четких корреляций между типом и локализацией мутации и тяжестью клинических проявлений заболевания. Обсуждено возможное влияние мутации в гене WDR62 на возникновение фибриллярной астроцитомы.

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