biostudies-literatureZhang QGuangxi Clinical Research Center for Pediatric DiseasesGuangxi Key Laboratory of Birth Defects and Stem Cell BiobankLiaoning Province Applied Basic Research Program ProjectGuangxi Key Laboratory of reproductive health and birth defect preventionGuangxi Zhuang Autonomous Region Health DepartmentGuangxi Zhuang Region Health Department116https://www.ebi.ac.uk/biostudies/studies/S-EPMC12911162biostudies-literatureUnknown26(1)<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>A novel likely pathogenic frameshift variant, c.929delBMC neurologyA novel de novo RNF13 variant in developmental and epileptic encephalopathy 73: genotype-phenotype correlation and literature review.PMC1291116221-220-22ZTJ2020002Guike AD22035121Z202202562023JH2/101300044Z-A20230305Z20190311Ruan YLuo JYang QZhang SZhou XZhang QfalseA novel de novo RNF13 variant in developmental and epileptic encephalopathy 73: genotype-phenotype correlation and literature review.<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>A novel likely pathogenic frameshift variant, c.929del2026-01-01T00:00:00Z2026 Jan2026-07-10T03:10:11.317Z2026-07-10T03:08:20.96ZS-EPMC129111624157821210.1186/s12883-026-04651-9