biostudies-literatureElsayed LEONIGMS NIH HHS100-110https://www.ebi.ac.uk/biostudies/studies/S-EPMC5159756biostudies-literatureUnknown25(1)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 demonstrEuropean journal of human genetics : EJHGHereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.PMC5159756R01 GM110567Mohamed HESAIbrahim MEElseed MAIdris MNMalik HMOMohammed INDarios FAhmed AERaymond LElsayed LEOHamed AAAJohnson AMohamed AYOOmer ZMBMElnour AMohamed EOEKoko MEBrice ABushara EERahim SMAStevanin GMairey MCoutelier MEl-Sadig SMSiddig RASalih MAMMagboul NAABabai AMAAhmed AKMAElbashir MIDurr AAudhya AEltahir HBAlattaya AfalseHereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.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 demonstr2016-01-01T00:00:00Z2016 Jan2026-04-18T07:16:48.833Z2019-03-27T02:31:39ZS-EPMC51597562760121110.1038/ejhg.2016.108