Figure 1

DNA sequence analysis of Alstrom syndrome mutations. Proband is indicated by the solid circle and arrow. Smaller symbols represent individuals from whom DNA was unavailable. There is no known consanguinity between the parents of this kindred. Electrophoretic tracings for exons 6 and 17 of the ALMS1 gene from the proband and available immediate relatives are shown. The proband is a compound heterozygote for the V424I and H3882 Y mutations while the mother demonstrates heterozygosity only for the H3882Y mutation and the younger sister demonstrates heterozygosity only for the V424I mutation. The older sister has no mutations in the ALMS1 gene.