A novel CUL4B splice site variant in a young male exhibiting less pronounced features.
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ABSTRACT:
SUBMITTER: Nakamura Y
PROVIDER: S-EPMC6804535 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Publications
A novel <i>CUL4B</i> splice site variant in a young male exhibiting less pronounced features.
Nakamura Yuji Y Okuno Yusuke Y Muramatsu Hideki H Kawai Tomoko T Satou Kazuhito K Ieda Daisuke D Hori Ikumi I Ohashi Kei K Negishi Yutaka Y Hattori Ayako A Takahashi Yoshiyuki Y Kojima Seiji S Saitoh Shinji S
Human genome variation 20190904
Patients with variants in <i>CUL4B</i> exhibit syndromic intellectual disability (MIM #300354). A seven-year-old boy presented with intellectual disability, a history of seizure, characteristic facial features, and short stature. Whole-exome sequencing detected a c.974+3A>G variant in <i>CUL4B</i>, which was subsequently confirmed to disrupt mRNA splicing. The current patient showed less pronounced phenotypic features compared with the previously reported cases. This report, therefore, provides ...[more]
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