Reply to Buddles et al. Academic Article uri icon

abstract

  • To the Editor:We congratulate Buddles et al. on their thorough evaluation of the factor H gene and on the identification of a mutation that we failed to detect in our study. The primary conclusions of our study were that (1) on the basis of segregation in a large Bedouin kindred with flanking microsatellite markers, hemolytic uremic syndrome can be inherited as an autosomal recessive disease tightly linked to the factor H locus, and (2) the affected Bedouin patients have abnormal cellular transport of factor H. These conclusions remain unchanged and are, in fact, strengthened by the excellent work of Buddles et al. We agree with their conclusion that further investigation of genotype-phenotype correlations in factor H abnormalities are needed to answer a number of interesting questions.

publication date

  • January 1, 2000