A novel de novo RNF13 variant in developmental and epileptic encephalopathy 73: genotype-phenotype correlation and literature review.

ABSTRACT:

Background

Developmental and epileptic encephalopathy-73 (DEE73, OMIM: #618379) is a rare autosomal dominant genetic disorder. This study reports a novel de novo RNF13 variant in a Chinese patient, aiming to assess its pathogenicity and expand understanding of the phenotypic and molecular spectrum of DEE73.

Methods

Whole-exome sequencing was performed on the patient to identify candidate variants associated with the clinical phenotype. Putative pathogenic variants were validated by Sanger sequencing. In silico prediction tools were used to assess the functional impact of the identified variant. A literature review was conducted to summarize the clinical features of the 7 previously reported cases of DEE73.

Results

A novel likely pathogenic frameshift variant, c.929del

SUBMITTER: Zhang Q 

PROVIDER: S-EPMC12911162 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature