DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome

Dikow N, Granzow M, Graul-Neumann LM, Karch S, Hinderhofer K, Paramasivam N, Behl LJ, Kaufmann L, Fischer C, Evers C, Schlesner M, Eils R, Borck G, Zweier C, Bartram CR, Carey JC, Moog U (2017)

Publication Type: Journal article

Publication year: 2017

Journal

American Journal of Medical Genetics Part A Wiley-Blackwell

Book Volume: 173

Pages Range: 1369-1373

Journal Issue: 5

DOI: 10.1002/ajmg.a.38164

Abstract

Recently, de novo heterozygous variants in DDX3X have been reported in about 1.5% of 2659 females with previously unexplained intellectual disability (ID). We report on the identification of DDX3X variants in two unrelated girls with clinical features of Toriello-Carey Syndrome (T-CS). In patient 1, the recurrent variant c.1703C>T; p.(P568L) was identified when reconsidering X-linked de novo heterozygous variants in exome sequencing data. In patient 2, the DDX3X variant c.1600C>G; p.(R534G) was also detected by exome sequencing. Based on these data, de novo heterozygous DDX3X variants should be considered not only in females with unexplained ID, but also in individuals with a clinical diagnosis of T-CS.

Authors with CRIS profile

Christiane Zweier Lehrstuhl für Humangenetik

Involved external institutions

Universität Ulm DE Germany (DE) Deutsches Krebsforschungszentrum (DKFZ) DE Germany (DE) Ruprecht-Karls-Universität Heidelberg DE Germany (DE) University of Utah US United States (USA) (US) Charité - Universitätsmedizin Berlin DE Germany (DE) Universitätsklinikum Heidelberg DE Germany (DE)

How to cite

APA:

Dikow, N., Granzow, M., Graul-Neumann, L.M., Karch, S., Hinderhofer, K., Paramasivam, N.,... Moog, U. (2017). DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. American Journal of Medical Genetics Part A, 173(5), 1369-1373. https://dx.doi.org/10.1002/ajmg.a.38164

MLA:

Dikow, Nicola, et al. "DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome." American Journal of Medical Genetics Part A 173.5 (2017): 1369-1373.

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