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

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

Yoshinori Tsurusaki  1   2 , Yukiko Kuroda  3 , Yasuko Yamanouchi  4 , Eisuke Kondo  5 , Kazunobu Ouchi  5 , Yuichi Kimura  1 , Yumi Enomoto  1 , Noriko Aida  6 , Mitsuo Masuno  4   5 , Kenji Kurosawa  3
Affiliations

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

Yoshinori Tsurusaki et al. Hum Genome Var. .

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.

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Conflict of interest statement

Conflict of interestThe authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1. Patients with USP9X variants.
a Patient 1 at 4 years of age. The patient exhibited upswept and curly hair, facial asymmetry, prominent forehead, bitemporal narrowing, short palpebral fissures, prominent nose with flared ala nasi, smooth philtrum, thin upper lip, full cheeks, and dysplastic ears. b Patient 1 at 4 years of age. The patient had tapered fingers. c Patient 2 at 18 months of age. Pigment changes along Blaschko lines bilaterally on the upper arms (d) and neck
Fig. 2
Fig. 2. USP9X variants.
Novel heterozygous variants identified in two female patients. USP9X is predicted to contain a ubiquitin-specific protease domain, as determined by SMART (http://smart.embl-heidelberg.de/). Electropherogram for each patient and her parents
See this image and copyright information in PMC

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