Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant.
Journal
Journal of human genetics
ISSN: 1435-232X
Titre abrégé: J Hum Genet
Pays: England
ID NLM: 9808008
Informations de publication
Date de publication:
Dec 2021
Dec 2021
Historique:
received:
21
04
2021
accepted:
02
06
2021
revised:
01
06
2021
pubmed:
12
6
2021
medline:
8
3
2022
entrez:
11
6
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34112922
doi: 10.1038/s10038-021-00948-4
pii: 10.1038/s10038-021-00948-4
doi:
Substances chimiques
Splicing Factor U2AF
0
U2AF2 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1185-1187Subventions
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP19ek0109297
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP20ek0109301
Informations de copyright
© 2021. The Author(s), under exclusive licence to The Japan Society of Human Genetics.
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