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

Yoshinori Tsurusaki; Yukiko Kuroda; Yasuko Yamanouchi; Eisuke Kondo; Kazunobu Ouchi; Yuichi Kimura; Yumi Enomoto; Noriko Aida; Mitsuo Masuno; Kenji Kurosawa

doi:10.1038/s41439-019-0081-7

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

Hum Genome Var. 2019 Oct 21:6:49. doi: 10.1038/s41439-019-0081-7. eCollection 2019.

Authors

Yoshinori Tsurusaki^{1

2}, Yukiko Kuroda³, Yasuko Yamanouchi⁴, Eisuke Kondo⁵, Kazunobu Ouchi⁵, Yuichi Kimura¹, Yumi Enomoto¹, Noriko Aida⁶, Mitsuo Masuno^{4

5}, Kenji Kurosawa³

Affiliations

¹ 1Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
² 2Faculty of Nutritional Science, Sagami Women's University, Sagamihara, Japan.
³ 3Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
⁴ 4Genetic Counseling Program, Graduate School of Health and Welfare, Kawasaki University of Medical Welfare, Kurashiki, Japan.
⁵ 5Department of Pediatrics, Kawasaki Medical School, Kurashiki, Japan.
⁶ 6Department of Radiology, Kanagawa Children's Medical Center, Yokohama, Japan.

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: Genetic testing; Genetics research.