Annals of Clinical and Experimental NeurologyAnnals of Clinical and Experimental NeurologyАнналы клинической и экспериментальной неврологии2075-54732409-2533Eco-Vector23510.17816/psaic235Clinical analysisКлинический разборUnknownA new allelic variant of rigid spine syndromeНовый аллельный вариант синдрома ригидного позвоночникаDadaliElena L.ДадалиЕлена Леонидовна
Russian Federation
genclinic@yandex.ruKadnikovaVarvara A.КадниковаВарвара Андреевна
Russian Federation
genclinic@yandex.ruhttps://orcid.org/0000-0002-5819-4835SharkovaInna V.ШарковаИнна Валентиновна
Russian Federation

Cand. Sci. (Med.), leading researcher, Scientific advisory department

к.м.н., в.н.с. научно-консультативного отд.

genclinic@yandex.ruPolyakovAlexander V.ПоляковАлександр Владимирович
Russian Federation
genclinic@yandex.ruResearch Center for Medical GeneticsФГБНУ «Медико-генетический научный центр им. Н.П. Бочкова»Research Centre for Medical GeneticsФГБНУ «Медико-генетический научный центр им. Н.П. Бочкова»0906201372515402022017Copyright ©; 2013, Dadali E.L., Kadnikova V.A., Sharkova I.V., Polyakov A.V.Copyright ©; 2013, Dadali E.L., Kadnikova V.A., Sharkova I.V., Polyakov A.V.2013Dadali E.L., Kadnikova V.A., Sharkova I.V., Polyakov A.V.Dadali E.L., Kadnikova V.A., Sharkova I.V., Polyakov A.V.https://creativecommons.org/licenses/by/4.0https://annaly-nevrologii.com/pathID/article/view/235

Description of clinical features of the disease in a 4-year-old boy with rigid spine syndrome is presented. Molecular genetic analysis revealed in this patient an unknown homozygous mutation 988delC in the SEPN1 gene (coding for selenoprotein N). In contrast to previously described selenoprotein-associated cases of the disease, our patient exhibited early involvement in the pathological process of muscles of the shoulder and the pelvic girdles.

Представлено описание особенностей клинических проявлений болезни у 4-летнего мальчика с синдромом ригидного позвоночника. Молекулярно-генетический анализ выявил у пациента ранее не описанную мутацию 988delC в гене SEPN1 (белок селенопротеин Н) в гомозиготном состоянии. В отличие от ранее описанных селенопротеин-ассоциированных случаев заболевания, у наблюдаемого пациента отмечено раннее вовлечение в патологический процесс мышц плечевого и тазового поясов.

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