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

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

doi:10.1038/s41439-019-0081-7

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.

Highlights

USP9X variants have been reported in patients with X-linked intellectual disability
USP9X encodes ubiquitinspecific protease 9×, which is highly expressed in the mouse brain and plays important roles in nervous system development, stabilization of myeloid leukemia cell differentiation protein (MCL1) in human follicular lymphomas and diffuse large B-cell lymphomas, and tumor cell survival[4,5,6]
We identified novel USP9X variants in two female patients with X-linked ID (XLID) by using targeted resequencing

Summary

Introduction

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. We identified novel USP9X variants in two female patients with XLID by using targeted resequencing. Correspondence: Mitsuo Masuno (m-masuno@mw.kawasaki-m.ac.jp) or Kenji Kurosawa (kkurosawa@kcmc.jp) 1Clinical Research Institute, Kanagawa Children’s Medical Center, Yokohama, Japan 2Faculty of Nutritional Science, Sagami Women’s University, Sagamihara, Japan Full list of author information is available at the end of the article. Patient 1 is a 4-year-old girl who is the second child of healthy and nonconsanguineous parents.

Results

Conclusion