{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["AlTassan R"],"funding":["the King Abdullah University of Science and Technology","the King Salman Center for Disability Research"],"pagination":["2252"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9777962"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["13(12)"],"pubmed_abstract":["Heterozygous pathogenic variants in <i>DNM1</i> are linked to an autosomal dominant form of epileptic encephalopathy. Recently, homozygous loss-of-function variants in <i>DNM1</i> were reported to cause an autosomal recessive form of developmental and epileptic encephalopathy in unrelated patients. Here, we investigated a singleton from a first-degree cousin marriage who presented with facial dysmorphism, global developmental delay, seizure disorder, and nystagmus. To identify the involvement of any likely genetic cause, diagnostic clinical exome sequencing was performed. Comprehensive filtering revealed a single plausible candidate variant in <i>DNM1</i>. Sanger sequencing of the trio, the patient, and her parents, confirmed the full segregation of the variant. The variant is a deletion l"],"journal":["Genes"],"pubmed_title":["Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in <i>DNM1</i>."],"pmcid":["PMC9777962"],"funding_grant_id":["REI/1/4446-01","FCC/1/1976-25","2180004"],"pubmed_authors":["Alromayan R","AlTassan R","Kaya N","Arold ST","Gonzalez-Alvarez AC","AlQudairy H","Alfalah A","AlHarbi OA"],"additional_accession":[]},"is_claimable":false,"name":"Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in <i>DNM1</i>.","description":"Heterozygous pathogenic variants in <i>DNM1</i> are linked to an autosomal dominant form of epileptic encephalopathy. Recently, homozygous loss-of-function variants in <i>DNM1</i> were reported to cause an autosomal recessive form of developmental and epileptic encephalopathy in unrelated patients. Here, we investigated a singleton from a first-degree cousin marriage who presented with facial dysmorphism, global developmental delay, seizure disorder, and nystagmus. To identify the involvement of any likely genetic cause, diagnostic clinical exome sequencing was performed. Comprehensive filtering revealed a single plausible candidate variant in <i>DNM1</i>. Sanger sequencing of the trio, the patient, and her parents, confirmed the full segregation of the variant. The variant is a deletion l","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Nov","modification":"2025-04-22T21:35:47.089Z","creation":"2024-11-12T21:19:51.415Z"},"accession":"S-EPMC9777962","cross_references":{"pubmed":["36553519"],"doi":["10.3390/genes13122252"]}}