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- Title
Novel USP9X variants in two patients with X-linked intellectual disability.
- Authors
Tsurusaki, Yoshinori; Kuroda, Yukiko; Yamanouchi, Yasuko; Kondo, Eisuke; Ouchi, Kazunobu; Kimura, Yuichi; Enomoto, Yumi; Aida, Noriko; Masuno, Mitsuo; Kurosawa, Kenji
- 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.
- Subjects
X-linked intellectual disabilities; WOMEN patients; HETEROZYGOSITY; DIFFUSE large B-cell lymphomas; CANCER cells
- Publication
Human Genome Variation, 2019, Vol 6, Issue 1, pN.PAG
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-019-0081-7