Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.

  title={Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.},
  author={Guida Landour{\'e} and P Zhu and Charles M Lourenço and Janel O. Johnson and Camilo Gonz{\'a}lez Toro and Katherine V Bricceno and Carlo Rinaldi and Katherine Gloria Meilleur and Modibo Sangar{\'e} and Oumarou Foly Diallo and T M Pierson and Hiroyuki Ishiura and Shoji Tsuji and Nichole D Hein and John K. Fink and Marion Stoll and G. E. Nicholson and Michael Anthony Gonzalez and Fiorella Speziani and Alexandra D{\"u}rr and Giovanni Stevanin and Leslie G. Biesecker and John Accardi and Dennis M.D. Landis and William A Gahl and Bryan J. Traynor and Wilson Junior Marques and Stephan Z{\"u}chner and Craig Blackstone and Kenneth H. Fischbeck and Barrington G Burnett},
  journal={Human mutation},
  volume={34 10},
We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described in two Malian sisters. Exome sequencing revealed a homozygous missense variant (c.187G>C; p.Ala63Pro) in C19orf12, a gene recently implicated in neurodegeneration with brain iron accumulation (NBIA). The same mutation was subsequently also found in a Brazilian family with features of NBIA, and we identified another NBIA patient with a three-nucleotide deletion (c.197_199del; p… CONTINUE READING


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