The genetics of the Alport syndrome

Analysis of the age at death of males with the Alport syndrome points out two distinct populations: one in which males die between ages 16 and 28 years, and the other in which males die between ages 33.5 and 52.2 years. Evidence suggests that these result from different genes of large effect. The segregation ratios of children of parents with Alport syndrome of either variety are generally consistent with an autosomal dominant mode of transmission, but the anomalous segregation from affected fathers remains to be explained.