Genetics of low spinal muscular atrophy carrier frequency in sub‐Saharan Africa

  title={Genetics of low spinal muscular atrophy carrier frequency in sub‐Saharan Africa},
  author={Modibo Sangar{\'e} and Brant Hendrickson and Hammadoun Ali Sango and Kelian Chen and Jonathan H. Nofziger and Abdelbasset Amara and Amalia Dutra and Alice B. Schindler and Aldiouma Guindo and Mahamadou Traore and George G. Harmison and Evgenia Pak and Fatoumata N'Go Yaro and Katherine V Bricceno and Christopher Grunseich and Guibin Chen and Manfred Boehm and Kristen Zukosky and Nouhoum Bocoum and Katherine Gloria Meilleur and Fatoumata Daou and Koumba Bagayogo and Yaya Ibrahim Coulibaly and Mahamadou Diakite and Michael P Fay and Hee‐Suk Lee and Ali Kandil Saad and Moez Gribaa and Andrew Singleton and Youssoufa Maiga and Sungyoung Auh and Guida Landour{\'e} and Rick M. Fairhurst and Barrington G Burnett and Thomas A Scholl and Kenneth H. Fischbeck},
  booktitle={Annals of neurology},
OBJECTIVE Spinal muscular atrophy (SMA) is one of the most common severe hereditary diseases of infancy and early childhood in North America, Europe, and Asia. SMA is usually caused by deletions of the survival motor neuron 1 (SMN1) gene. A closely related gene, SMN2, modifies the disease severity. SMA carriers have only 1 copy of SMN1 and are relatively common (1 in 30-50) in populations of European and Asian descent. SMN copy numbers and SMA carrier frequencies have not been reliably… CONTINUE READING