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

ABSTRACT: 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.

SUBMITTER: Tsurusaki Y 

PROVIDER: S-EPMC6804943 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature