1. Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant.
- Author
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Hiraide T, Tanaka T, Masunaga Y, Ohkubo Y, Nakashima M, Fukuda T, Ogata T, and Saitsu H
- Subjects
- Genetic Association Studies methods, Genetic Predisposition to Disease, Humans, Exome Sequencing, Abnormalities, Multiple diagnosis, Abnormalities, Multiple genetics, Developmental Disabilities diagnosis, Developmental Disabilities genetics, Epilepsy diagnosis, Epilepsy genetics, Mutation, Splicing Factor U2AF genetics
- Abstract
U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre-mRNA splicing factor in an early step of splicing. Alternative splicing plays an important role in neuronal development, and disorders of RNA processing steps are implicated in neurological disorders. Recently, the large trio whole-exome sequencing study reported U2AF2 as a novel gene significantly associated with developmental disorders: however, the clinical details of patients with U2AF2 variants were not available. Here, we report an individual with a de novo U2AF2 variant (c.445C>T, p.(Arg149Trp)) using trio-based whole-exome sequencing. This residue was positioned in the RNA recognition motif 1 which recognizes a polypyrimidine-tract splice site signal. The patient showed global developmental delay, intellectual disability, epilepsy, short stature, microcephaly, facial dysmorphism, intermittent exotropia, bilateral ptosis, muscle hypotonia and thin corpus callosum, indicating that U2AF2-related disorder could include systemic dysmorphisms, epilepsy and brain malformation along with global developmental delay., (© 2021. The Author(s), under exclusive licence to The Japan Society of Human Genetics.)
- Published
- 2021
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