{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Elsayed LEO"],"funding":["NIGMS NIH HHS"],"pagination":["100-110"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5159756"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["25(1)"],"pubmed_abstract":["Hereditary spastic paraplegias (HSP) are the second most common type of motor neuron disease recognized worldwide. We investigated a total of 25 consanguineous families from Sudan. We used next-generation sequencing to screen 74 HSP-related genes in 23 families. Linkage analysis and candidate gene sequencing was performed in two other families. We established a genetic diagnosis in six families with autosomal recessive HSP (SPG11 in three families and TFG/SPG57, SACS and ALS2 in one family each). A heterozygous mutation in a gene involved in an autosomal dominant HSP (ATL1/SPG3A) was also identified in one additional family. Six out of seven identified variants were novel. The c.64C>T (p.(Arg22Trp)) TFG/SPG57 variant (PB1 domain) is the second identified that underlies HSP, and we demonstr"],"journal":["European journal of human genetics : EJHG"],"pubmed_title":["Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan."],"pmcid":["PMC5159756"],"funding_grant_id":["R01 GM110567"],"pubmed_authors":["Mohamed HESA","Ibrahim ME","Elseed MA","Idris MN","Malik HMO","Mohammed IN","Darios F","Ahmed AE","Raymond L","Elsayed LEO","Hamed AAA","Johnson A","Mohamed AYO","Omer ZMBM","Elnour A","Mohamed EOE","Koko ME","Brice A","Bushara EE","Rahim SMA","Stevanin G","Mairey M","Coutelier M","El-Sadig SM","Siddig RA","Salih MAM","Magboul NAA","Babai AMA","Ahmed AKMA","Elbashir MI","Durr A","Audhya A","Eltahir HB","Alattaya A"],"additional_accession":[]},"is_claimable":false,"name":"Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.","description":"Hereditary spastic paraplegias (HSP) are the second most common type of motor neuron disease recognized worldwide. We investigated a total of 25 consanguineous families from Sudan. We used next-generation sequencing to screen 74 HSP-related genes in 23 families. Linkage analysis and candidate gene sequencing was performed in two other families. We established a genetic diagnosis in six families with autosomal recessive HSP (SPG11 in three families and TFG/SPG57, SACS and ALS2 in one family each). A heterozygous mutation in a gene involved in an autosomal dominant HSP (ATL1/SPG3A) was also identified in one additional family. Six out of seven identified variants were novel. The c.64C>T (p.(Arg22Trp)) TFG/SPG57 variant (PB1 domain) is the second identified that underlies HSP, and we demonstr","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Jan","modification":"2026-04-18T07:16:48.833Z","creation":"2019-03-27T02:31:39Z"},"accession":"S-EPMC5159756","cross_references":{"pubmed":["27601211"],"doi":["10.1038/ejhg.2016.108"]}}