medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2021.10.50-52medgen-1989Research ArticleКРАТКИЕ СООБЩЕНИЯBRIEF REPORTИнтерстициальная делеция Xq21 материнского происхождения у пациента мужского пола с глухотой и синдромом умственной отсталостиA maternally inherited Interstitial Xq21 deletion associated with deafness and mental retardation syndrome in a male patientМарковаЖ. Г.MarkovaZh. G.zhmark71@mail.ruМиньженковаМ. Е.MinzhenkovaM. E.noemail@neicon.ruДеминаН. А.DeminaN. A.noemail@neicon.ruШиловаН. В.ShilovaN. V.noemail@neicon.ruФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияResearch Centre for Medical GeneticsRussian Federation20212112202120105052Copyright © Маркова Ж.Г., Миньженкова М.Е., Демина Н.А., Шилова Н.В., 20212021Маркова Ж.Г., Миньженкова М.Е., Демина Н.А., Шилова Н.В.Markova Z.G., Minzhenkova M.E., Demina N.A., Shilova N.V.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/1989

Клиническое значение делеции района q21 хромосомы X у мужчин все еще плохо изучено. Было показано, что делеция Xq21, включающая гены POU3F4, CHM и ZNF711, может приводить к глухоте, умственной отсталости и хороидеремии. Несмотря на тяжелые симптомы, наблюдаемые у пробандов-мужчин, большинство носителей женского пола бессимптомны или имеют незначительные фенотипические проявления. Представлена клиническая и молекулярно-цитогенетическая характеристика случая делеции района q21.1-q21.31 хромосомы X, выявленной при проведении хромосомного микроматричного анализа у пациента с задержкой психоречевого развития, лицевыми дизморфиями и тугоухостью. Такая же делеция была выявлена у практически здоровой матери. Наши данные способствуют дальнейшему пониманию корреляции между делецией Xq21 и аномальным фенотипом.

Deletions on the X chromosome can lead to serious birth defects. Deletions in Xq21 cause various congenital defects in males including choroideremia, deafness and mental retardation, depending on their size and gene content. Only a limited number of patients with Xq21 deletions has been reported. It has been shown that deletions of the adjacent Xq21 genes, including the POU3F4, CHM and ZNF711 genes, can lead to deafness and mental retardation syndrome and choroideremia. Despite the severe symptoms exhibited by male probands, most female carriers are asymptomatic or exhibit only a mild phenotype. The article presents the clinical and molecular-cytogenetic characteristics of a case of deletion of the Xq21.1-q21.31 region of chromosome X, revealed during chromosomal microarray analysis in a patient with delayed psycho-speech development, facial dysmorphisms and hearing loss. The same deletion was found in an apparently healthy mother. Our study confirms the causative effect between the Xq21 deletion in males and choroideremia, deafness and mental retardation.

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