medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLCmedgen-321Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASEОписание клинического случая синдрома X-сцепленной умственной отсталости 102 типа, обусловленного мутацией в гене DDX3XDescription of a clinical case of syndrome of mental retardation, X-linked 102, caused by a mutation in the gene DDX3XМатющенкоГ. Н.MatyushchenkoG. N.matyushchenko@med-gen.ruАнисимоваИ. В.AnisimovaI. V.noemail@neicon.ruФГБНУ «Медико-генетический научный центр»РоссияResearch Centre for Medical GeneticsRussian Federation2017200220181684648Copyright © Матющенко Г.Н., Анисимова И.В., 20182018Матющенко Г.Н., Анисимова И.В.Matyushchenko G.N., Anisimova I.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/321

Представлены результаты клинического и генетического обследования девочки 5 лет с синдромом X-сцепленной умственной отсталости 102 типа, обусловленной мутацией в гене DDX3X , выявленной методом клинического секвенирования экзома. Приведены клинические характеристики синдрома X-сцепленной умственной отсталости 102 типа, описанные в литературе.

We present clinical and genetic characteristics of the girl with syndrome of mental retardation, X-linked 102 caused by a mutation in gene DDX3X identified in exome sequencing. We cited the clinical characteristics of syndrome of X-linked mental retardation type 102 described in the literature.

умственная отсталость 102 типаклиническое секвенирование экзомаген DDX3Xmental retardation 102clinical exome sequencinggene DDX3XReferencesSnijders Blok L., Madsen E., Juusola J., Gilissen C., Baralle D., Reijnders M. R. F., Venselaar H., Helsmoortel C., Cho M. T., Hoischen A., Vissers L. E. L. M., Koemans T. S. and 74 others. Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling // Am. J. Hum. Genet. - 2015. - Vol. 97(2). - P. 343-352.Snijders Blok L., Madsen E., Juusola J., Gilissen C., Baralle D., Reijnders M. R. F., Venselaar H., Helsmoortel C., Cho M. T., Hoischen A., Vissers L. E. L. M., Koemans T. S. and 74 others. Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling // Am. J. Hum. Genet. - 2015. - Vol. 97(2). - P. 343-352.Dikow N., Granzow M, Graul-Neumann L. M., Karch S., Hinderhofer K., Paramasivam N., Behl L. J., Kaufmann L., Fischer C., Evers C., Schlesner M., Eils R., Borck G., Zweier C., Bartram C.R., Carey J.C., Moog U. DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome // Am. J. Med. Genet. A. - 2017. - Vol. 173(5). - P. 1369-1373.Dikow N., Granzow M, Graul-Neumann L. M., Karch S., Hinderhofer K., Paramasivam N., Behl L. J., Kaufmann L., Fischer C., Evers C., Schlesner M., Eils R., Borck G., Zweier C., Bartram C.R., Carey J.C., Moog U. DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome // Am. J. Med. Genet. A. - 2017. - Vol. 173(5). - P. 1369-1373.Roeleveld N., Zielhuis G.A., and Gabreels F. The prevalence of mental retardation: a critical review of recent literature // Dev. Med. Child Neurol. - 1997. - Vol. 39. - P. 125-132.Roeleveld N., Zielhuis G.A., and Gabreels F. The prevalence of mental retardation: a critical review of recent literature // Dev. Med. Child Neurol. - 1997. - Vol. 39. - P. 125-132.Maulik P. K., Mascarenhas M. N., Mathers C. D., Dua T., and Saxena S. Prevalence of intellectual disability: a meta-analysis of population-based studies // Res. Dev. Disabil. - 2011. - Vol. 32. - P. 419-436.Maulik P. K., Mascarenhas M. N., Mathers C. D., Dua T., and Saxena S. Prevalence of intellectual disability: a meta-analysis of population-based studies // Res. Dev. Disabil. - 2011. - Vol. 32. - P. 419-436.Hu H., Haas S. A., Chelly J., Van Esch H., Raynaud M., de Brouwer A. P., Kalscheuer V. M. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes // Mol. Psychiatry. - 2016. - Vol. 21. - P. 133-148.Hu H., Haas S. A., Chelly J., Van Esch H., Raynaud M., de Brouwer A. P., Kalscheuer V. M. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes // Mol. Psychiatry. - 2016. - Vol. 21. - P. 133-148.Kochinke K., Zweier C., Nijhof B., Fenckova M., Cizek P., Honti F., Schenck A. Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules // Am. J. Hum. Genet. - 2016. - Vol. 98. - P. 149-164.Kochinke K., Zweier C., Nijhof B., Fenckova M., Cizek P., Honti F., Schenck A. Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules // Am. J. Hum. Genet. - 2016. - Vol. 98. - P. 149-164.Piton A., Redin C., Mandel J. L. XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing // Am. J. Hum. Genet. - 2013. - Vol. 93. - P. 368-383.Piton A., Redin C., Mandel J. L. XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing // Am. J. Hum. Genet. - 2013. - Vol. 93. - P. 368-383.

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