A de novo variant of BICRA results in Coffin-Siris syndrome 12.
Mol Genet Genomic Med
; 11(11): e2250, 2023 Nov.
Article
em En
| MEDLINE
| ID: mdl-37485815
ABSTRACT
BACKGROUND:
BICRA, a transcript regulator, was identified as the genetic factor of Coffin-Siris syndrome 12 (CSS12) recently, which was characterized by diverse neurodevelopmental delays. Up to now, limited studies of BICRA in neurodevelopmental delay have been reported.METHODS:
Clinical data such as EEGs, MRIs, routine blood, and physical examination were collected. Trio whole exome sequencing (WES) of the family was performed, and all variants with a minor allele frequency (<0.01) in exon and canonical splicing sites were selected for further pathogenic evaluation. Candidate variants were validated by Sanger sequencing. The BICRA-related literature was reviewed and the clinical characteristics were summarized.RESULTS:
We reported a CSS12 proband with a narrow and slightly clinical phenotype who only exhibited language developmental delay, hypotonia, and slight gastrointestinal features. WES revealed a de novo variant in exon 6 of BICRA [NM_015711.3 c.1666C>T, p.Gln556*]. This variant resulted in an early translation termination at 556th of BICRA, not collected in the public population database (gnomAD), and classified as pathogenic according to the ACMG guideline.CONCLUSION:
Our results expanded the pathogenic genetic and clinical spectrum of BICRA-related diseases.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Deficiência Intelectual
/
Micrognatismo
Tipo de estudo:
Guideline
/
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Mol Genet Genomic Med
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
China