Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press26110.17650/2222-8721-2018-8-1-34-37ORIGINAL REPORTSОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯLamb–Shaffer syndrome, deferred outside not described by SOX5 mutationСиндром Ламб–Шаффера, обусловленный ранее не описанной мутацией в гене SOX5https://orcid.org/0000-0002-5819-4835SharkovaI. V.ШарковаИ. В.
Russian Federation
sharkova-inna@rambler.ruhttps://orcid.org/0000-0001-5602-2805DadaliE. L.ДадалиЕ. Л.
Russian Federation
Research Center of Medical GeneticsФБГНУ «Медико-генетический научный центр»300420188134373004201830042018Copyright ©; 2018, Sharkova I.V., Dadali E.L.Copyright ©; 2018, Шаркова И.В., Дадали Е.Л.2018Sharkova I.V., Dadali E.L.Шаркова И.В., Дадали Е.Л.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/261

Clinical and genetic characteristics of a patient with Lamb–Shaffer syndrome due to the newly discovered heterozygous missense mutation p.1868A>C in the 14 exon of the SOX5 gene are presented in the next generation sequencing of exom. It is shown that, in contrast to the previously described patients due to the presence of a deletion in the region of the gene or segment of chromosome 12p12.1, in the presence of missense mutation, the intellectual deficit and the dysmorphic features of the structure are not pronounced sharply and there is no anomaly in the development of other organs and systems.

Представлены клинико-генетические характеристики больного с синдромом Ламб–Шаффера, обусловленным впервые выявленной гетерозиготной миссенс-мутацией с.1868А>С в экзоне 14 гена SOX5 при проведении секвенирования экзома нового поколения. Показано, что в отличие от ранее описанных больных c синдромом Ламб–Шаффера, обусловленным наличием делеции в области гена или участка хромосомы 12р12.1, при миссенс-мутации интеллектуальный дефицит и дисморфические черты строения выражены нерезко и отсутствуют аномалии развития других органов и систем.

 

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