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Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

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dc.contributor.author Elsayed, Liena EO
dc.contributor.author Mohammed, Inaam N.
dc.contributor.author Hamed, Ahlam A. A.
dc.contributor.author Elseed, Maha A.
dc.contributor.author Johnson, Adam
dc.contributor.author Mairey, Mathilde
dc.contributor.author Mohamed, Hassab Elrasoul SA
dc.contributor.author Idris, Mohamed N
dc.contributor.author Salih, Mustafa AM
dc.contributor.author El-sadig, Sarah M
dc.contributor.author Koko, Mahmoud E
dc.contributor.author Mohamed, Ashraf YO
dc.contributor.author Raymond, Laure
dc.contributor.author Coutelier, Marie
dc.contributor.author Darios, Frédéric
dc.contributor.author Siddig, Rayan A
dc.contributor.author Ahmed, Ahmed KMA
dc.contributor.author Babai, Arwa MA
dc.contributor.author Malik, Hiba MO
dc.contributor.author Omer, Zulfa MBM
dc.contributor.author Mohamed, Eman OE
dc.contributor.author Eltahir, Hanan B
dc.contributor.author Magboul, Nasr Aldin A
dc.contributor.author Bushara, Elfatih E
dc.contributor.author Ibrahim, Muntaser E
dc.contributor.author Durr, Alexandra
dc.contributor.author Audhya, Anjon
dc.contributor.author Brice, Alexis
dc.contributor.author Ahmed, Ammar E
dc.contributor.author Stevanin, Giovanni
dc.date.accessioned 2019-11-18T09:34:42Z
dc.date.accessioned 2021-02-01T21:00:37Z
dc.date.available 2019-11-18T09:34:42Z
dc.date.available 2021-02-01T21:00:37Z
dc.date.issued 2016
dc.identifier.uri http://repo.nusu.edu.sd/xmlui/handle/123456789/115
dc.description.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 HSPrelated 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.64C4T (p.(Arg22Trp)) TFG/SPG57 variant (PB1 domain) is the second identified that underlies HSP, and we demonstrated its impact on TFG oligomerization in vitro. Patients did not present with visual impairment as observed in a previously reported SPG57 family (c.316C4T (p.(Arg106Cys)) in coiled-coil domain), suggesting unique contributions of the PB1 and coiled-coil domains in TFG complex formation/function and a possible phenotype correlation to variant location. Some families manifested marked phenotypic variations implying the possibility of modifier factors complicated by high inbreeding. Finally, additional genetic heterogeneity is expected in HSP Sudanese families. The remaining families might unravel new genes or uncommon modes of inheritance. en_US
dc.language.iso en en_US
dc.publisher European Journal of Human Genetics en_US
dc.subject Hereditary spastic paraplegias en_US
dc.subject motor neuron disease en_US
dc.subject HSP en_US
dc.subject Sudan en_US
dc.subject SPG57 en_US
dc.subject TFG en_US
dc.subject oligomerization en_US
dc.title Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan en_US
dc.type Article en_US

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