The c.859G > C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor
Por:
Bernal, S, Alias, L, Barcelo, MJ, Also-Rallo, E, Martinez-Hernandez, R, Gamez, J, Guillen-Navarro, E, Rosell, J, Hernando, I, Rodriguez-Alvarez, FJ, Borrego, S, Millan, JM, Hernandez-Chico, C, Baiget, M, Fuentes-Prior, P, Tizzano, EF
Publicada:
1 sep 2010
Resumen:
Homozygous mutations of the telomeric SMN1 gene lead to degeneration of motor neurons causing spinal muscular atrophy (SMA). A highly similar centromeric gene (SMN2) can only partially compensate for SMN1 deficiency. The c.859G>C variant in SMN2 has been recently reported as a positive disease modifier. We identified the variant in 10 unrelated chronic SMA patients with a wide spectrum of phenotypes ranging from type II patients who can only sit to adult walkers. Haplotype analysis strongly suggests that the variant originated from a common ancestor. Our results confirm that the c.859G>C variant is a milder SMN2 allele and predict a direct correlation between SMN activity and phenotypic severity.
Filiaciones:
Bernal, S:
Hosp Santa Creu & Sant Pau, Serv Genet, Barcelona 08025, Spain
CIBERER, U705, Barcelona, Spain
Alias, L:
Hosp Santa Creu & Sant Pau, Serv Genet, Barcelona 08025, Spain
CIBERER, U705, Barcelona, Spain
Barcelo, MJ:
Hosp Santa Creu & Sant Pau, Serv Genet, Barcelona 08025, Spain
CIBERER, U705, Barcelona, Spain
Also-Rallo, E:
Hosp Santa Creu & Sant Pau, Serv Genet, Barcelona 08025, Spain
CIBERER, U705, Barcelona, Spain
Martinez-Hernandez, R:
Hosp Santa Creu & Sant Pau, Serv Genet, Barcelona 08025, Spain
CIBERER, U705, Barcelona, Spain
Gamez, J:
Hosp Gen Valle Hebron, Serv Neurol, Barcelona, Spain
Guillen-Navarro, E:
Hosp Univ Virgen Arrixaca, Unidad Genet Med, Murcia, Spain
Rosell, J:
Hosp Son Dureta, Dept Genet, Palma de Mallorca, Spain
Hernando, I:
Univ Asturias, Serv Genet Hosp, Oviedo, Spain
Rodriguez-Alvarez, FJ:
Hosp Ramon & Cajal, Unidad Genet, E-28034 Madrid, Spain
CIBERER, U728, Madrid, Spain
Borrego, S:
Hosp Virgen Rocio, Unidad Gest Clin Genet Reprod Med Fetal, Seville, Spain
CIBERER, U702, Seville, Spain
Millan, JM:
Hosp La Fe, Unidad Genet, Valencia, Spain
CIBERER, Valencia, Spain
Hernandez-Chico, C:
Hosp Ramon & Cajal, Unidad Genet, E-28034 Madrid, Spain
CIBERER, U728, Madrid, Spain
Baiget, M:
Hosp Santa Creu & Sant Pau, Serv Genet, Barcelona 08025, Spain
CIBERER, U705, Barcelona, Spain
Fuentes-Prior, P:
Hosp Santa Creu & Sant Pau, Unitat Bases Mol Malalties, Res Inst, Barcelona, Spain
Tizzano, EF:
Hosp Santa Creu & Sant Pau, Serv Genet, Barcelona 08025, Spain
CIBERER, U705, Barcelona, Spain
Open Access
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