Reporting a Homozygous Case of Neurodevelopmental Disorder Associated With a Novel PRPF8 Variant.

ABSTRACT:

Background

While recently identified heterozygous PRPF8 variants have been linked to various human diseases, their role in neurodevelopmental disorders (NDDs) remains ambiguous. This study investigates the potential association between homozygous PRPF8 variants and NDDs. Most PRPF8 variants are primarily associated with retinal diseases; however, we analyze a family with multiple members diagnosed with NDDs.

Methods

Using exome sequencing (ES), the cause of behavioral problems and intellectual disabilities (IDs) of two sisters from a consanguineous parents was solved, and the results confirmed by direct sanger sequencing method likewise protein modeling to assess the structural impact of the identified variant on the PRPF8 protein has been done.

Results

ES identified

SUBMITTER: Mirinezhad MR 

PROVIDER: S-EPMC11894437 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature