期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 173, 期 5, 页码 1369-1373出版社
WILEY
DOI: 10.1002/ajmg.a.38164
关键词
DDX3X; exome sequencing; intellectual disability; Toriello-Carey syndrome
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.
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