Figure 1.

An eastern Indian Muslim pedigree affected by juvenile onset POAG (JOAG) caused by a novel CYP1B1 mutation (c.1940G>C, Arg523Thr). A: The arrow points to the proband (III-2). Squares and circles represent males and females, respectively. Slashed symbols represent deceased individuals in the pedigree. Solid and open symbols represent JOAG affected and normal individuals, respectively. In the pedigree, the age of all the participating individuals and genotypes determined by direct DNA sequencing is shown. The age at diagnosis of JOAG in all affected family members is shown in parentheses. B: Representative chromatograms show the location of the mutation (indicated by arrow) within CYP1B1 and the nature of nucleotide change present in proband (III-2) and his phenotypically normal siblings (III-4 and III-5).