My 4 week old grandson was just given a diagnosis of CF based on positive NBS of two mutations R117H/R117H. Sweat test performed today at MCG in Augusta, Ga came back normal, however diagnosis was handed out based on appearance of two mutations - which I guess means homozygous for R117H. MD says this is "very rare", and will need to do further testing to determine if 5T or 7T.
I can't find any literature on incidence of both CFTR genes with mutations at R117H. Any information will be helpful as this diagnosis has taken us all by surprise as there is no knowledge of CF or carrier status on either side of the families.
Ally
I can't find any literature on incidence of both CFTR genes with mutations at R117H. Any information will be helpful as this diagnosis has taken us all by surprise as there is no knowledge of CF or carrier status on either side of the families.
Ally