biostudies-literatureUnknown13(3)Mirinezhad MR<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>ES identified Molecular genetics & genomic medicinee70084https://www.ebi.ac.uk/biostudies/studies/S-EPMC11894437biostudies-literatureReporting a Homozygous Case of Neurodevelopmental Disorder Associated With a Novel PRPF8 Variant.PMC11894437Farahmand SSeyedtaghia MRMirinezhad MRSalmaninejad AHashemian SMirzaei FLewis MESEsfehani RJToosi MBfalseReporting a Homozygous Case of Neurodevelopmental Disorder Associated With a Novel PRPF8 Variant.<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>ES identified 2025-01-01T00:00:00Z2025 Mar2025-04-22T11:17:47.611Z2025-04-05T23:54:00.374ZS-EPMC118944374006664710.1002/mgg3.70084