Novel USP9X variants in two patients with X-linked intellectual disability.
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ABSTRACT:
SUBMITTER: Tsurusaki Y
PROVIDER: S-EPMC6804943 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Publications
Novel <i>USP9X</i> variants in two patients with X-linked intellectual disability.
Tsurusaki Yoshinori Y Kuroda Yukiko Y Yamanouchi Yasuko Y Kondo Eisuke E Ouchi Kazunobu K Kimura Yuichi Y Enomoto Yumi Y Aida Noriko N Masuno Mitsuo M Kurosawa Kenji K
Human genome variation 20191021
<i>USP9X</i> 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 <i>USP9X</i>. Our findings provide further evidence that <i>USP9X</i> variants cause intellectual disability. ...[more]
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