Dikow Nicola, Granzow Martin, Graul-Neumann Luitgard M, Karch Stephanie, Hinderhofer Katrin, Paramasivam Nagarajan, Behl Laura-Jane, Kaufmann Lilian, Fischer Christine, Evers Christina, Schlesner Matthias, Eils Roland, Borck Guntram, Zweier Christiane, Bartram Claus R, Carey John C, Moog Ute
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Ambulantes Gesundheitszentrum Humangenetik, Charité Universitätsmedizin Berlin, Berlin, Germany.
Am J Med Genet A. 2017 May;173(5):1369-1373. doi: 10.1002/ajmg.a.38164. Epub 2017 Mar 29.
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.
最近，在2659名既往病因不明的智力障碍（ID）女性中，约1.5%的患者被报道存在DDX3X基因的新生杂合变异。我们报告了在两名患有托里埃洛-凯里综合征（T-CS）临床特征的无关女孩中鉴定出DDX3X变异。在患者1中，重新审视外显子组测序数据中的X连锁新生杂合变异时，发现了反复出现的变异c.1703C>T；p.(P568L)。在患者2中，外显子组测序也检测到了DDX3X变异c.1600C>G；p.(R534G)。基于这些数据，不仅在病因不明的ID女性中，而且在临床诊断为T-CS的个体中，都应考虑新生杂合DDX3X变异。
