vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v15i2.1536vsp-1609Research ArticleОБМЕН ОПЫТОМEXCHANGE OF EXPERIENCEМолекулярно-генетические основы наследственных заболеваний соединительной ткани, сопровождающихся частыми переломамиMolecular and Genetic Basis of Hereditary Connective-Tissue Diseases Accompanied by Frequent FracturesЯхяеваГ. Т.YakhyaevaG. T.

врач-педиатр отделения восстановительного лечения детей с нефроурологическими заболеваниями, ожирением и метаболическими болезнями НЦЗД Адрес: 119991, Москва, Ломоносовский проспект, д. 2, стр. 3, тел.: +7 (499) 134-07-43

guzall_2404@mail.ruНамазова-БарановаЛ. С.Namazova-BaranovaL. S.МаргиеваТ. В.MargievaT. V.ЖурковаН. В.ZhurkovaN. V.ПушковА. А.PushkovA. A.СавостьяновК. В.SavostyanovK. V.Научный центр здоровья детей, Москва, Российская ФедерацияРоссияScientific Centre of Children’s Health, Moscow, Russian FederationRussian FederationНаучный центр здоровья детей, Москва, Российская Федерация Первый Московский государственный медицинский университет им. И.М. Сеченова, Москва, Российская Федерация Российский национальный исследовательский медицинский университет им. Н.И. Пирогова, Москва, Российская ФедерацияРоссияScientific Centre of Children’s Health, Moscow, Russian Federation I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation Pirogov Russian National Research Medical University, Moscow, Russian FederationRussian FederationНаучный центр здоровья детей, Москва, Российская Федерация Первый Московский государственный медицинский университет им. И.М. Сеченова, Москва, Российская ФедерацияРоссияScientific Centre of Children’s Health, Moscow, Russian Federation I.M. Sechenov First Moscow State Medical University, Moscow, Russian FederationRussian Federation201601062016152175179Copyright © Яхяева Г.Т., Намазова-Баранова Л.С., Маргиева Т.В., Журкова Н.В., Пушков А.А., Савостьянов К.В., 20162016Яхяева Г.Т., Намазова-Баранова Л.С., Маргиева Т.В., Журкова Н.В., Пушков А.А., Савостьянов К.В.Yakhyaeva G.T., Namazova-Baranova L.S., Margieva T.V., Zhurkova N.V., Pushkov A.A., Savostyanov K.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/1609

Частые переломы костей в раннем детском возрасте требуют исключения большого числа (> 100) генетических нарушений. Современным методом диагностики наследственных заболеваний, характеризующихся инвалидизирующим течением, является секвенирование нового поколения. В статье представлены результаты молекулярно-генетического исследования, проведенного у 18 пациентов с клиническими симптомами поражения соединительной ткани. У 10 (56%) пациентов выявлены мутации в генах, кодирующих цепи коллагена I типа, приводящие к развитию несовершенного остеогенеза, у 5 (28%) — мутации в генах коллагена IV и V типа, которые ответственны за развитие синдрома Элерса–Данло. У 3 (17%) пациентов выявлены мутации в гене, кодирующем белок фибриллин-1, недостаточность которого проявляется синдромом Марфана. Однако не во всех случаях установлена связь между фенотипом больного и обнаруженными мутациями в исследованном гене.

Frequent bone fractures in infancy require the elimination of a large number (> 100) of genetic disorders. The modern diagnostic method of hereditary diseases characterized by debilitating course is a new generation sequencing. The article presents the results of molecular-genetic study conducted in 18 patients with clinical symptoms of connective tissue disorders. 10 (56%) patients had mutations in the genes encoding type I collagen chains, leading to the development of osteogenesis imperfecta, 5 (28%) — mutations in IV and V type collagen genes that are responsible for the development of Ehlers-Danlos syndrome. 3 (17%) patients had mutations in the gene encoding fibrillin-1 protein, deficiency of which is manifested by Marfan syndrome. However, the correlation between patient's phenotype and discovered mutations in the investigated gene is established not in all cases.

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