Novel DIP2C gene splicing variant in an individual with focal infantile epilepsy.
Am J Med Genet A
; 188(1): 210-215, 2022 01.
Article
em En
| MEDLINE
| ID: mdl-34617658
ABSTRACT
Disco-interacting protein 2 C (DIP2C) encodes a disco-interacting protein and is highly expressed in the nervous system. Most variants of DIP2C are microdeletions on chromosome 10p15.3. This study reports a 17-month-old infant with focal infantile epilepsy who has a single-nucleotide variation in DIP2C that results in alternative splicing. The de novo variation (NM_014974.3 c.1057+2T>G) in DIP2C was uncovered through whole-exome sequencing. Minigene assays were performed and verified the alternative splicing caused by the variation. Finally, an 80-bp nucleotide deletion in the 3' end of Exon 8 was detected. Our study identified a de novo splicing variant that affects the coding length of DIP2C. This finding provides a new candidate gene for focal infantile epilepsy. Importantly, our finding is the first to associate a single nucleotide variant in DIP2C with focal infantile epilepsy.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Espasmos Infantis
/
Epilepsia
/
Proteínas de Neoplasias
Tipo de estudo:
Prognostic_studies
Limite:
Humans
/
Infant
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article