Description of a clinical case of syndrome of mental retardation, X-linked 102, caused by a mutation in the gene DDX3X
Abstract
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.
About the Authors
G. N. Matyushchenko
Research Centre for Medical Genetics
Russian Federation
Russian Federation
I. V. Anisimova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
References
1. 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.
2. 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.
3. 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.
4. 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.
5. 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.
6. 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.
7. 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.
Review
For citations:
Matyushchenko G.N., Anisimova I.V. Description of a clinical case of syndrome of mental retardation, X-linked 102, caused by a mutation in the gene DDX3X. Medical Genetics. 2017;16(8):46-48. (In Russ.)
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