Novel USP9X variants in two patients with X-linked intellectual disability.

Yoshinori TsurusakiYukiko KurodaYasuko YamanouchiEisuke KondoKazunobu OuchiYuichi KimuraYumi EnomotoNoriko AidaMitsuo MasunoKenji Kurosawa

Published in: Human genome variation (2019)

USP9X variants have been reported in patients with X-linked intellectual disability. Here, we report two female patients with intellectual disability and pigment abnormalities along Blaschko lines. Targeted resequencing identified two novel heterozygous variants, c.4068_4072del (p. (Leu1357Tyrfs*12)) and c.1201C>T (p. (Arg401*)), in USP9X. Our findings provide further evidence that USP9X variants cause intellectual disability.

Keyphrases

intellectual disability
autism spectrum disorder
copy number
early onset
gene expression
dna methylation
genome wide
cancer therapy