Novel USP9X variants in two patients with X-linked intellectual disability
Open Access
- 21 October 2019
- journal article
- research article
- Published by Springer Nature in Human Genome Variation
- Vol. 6 (1) , 1-3
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.Keywords
Funding Information
- Japan Agency for Medical Research and Development (18kk02050h003)
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