CYP1B1 gene mutations with incomplete penetrance in a Chinese pedigree with primary congenital glaucoma: a case report and review of literatures.

To investigate the cytochrome P4501B1 (CYP1B1) mutations in a three-generation Chinese Han family with PCG, the 2 and 3 coding exons of CYP1B1 gene were amplified by PCR, and were directly sequenced using Sanger bidirectional sequencing reactions. The mutation c.517 G>A p.E173K was detected in all the affected individuals (which showed homozygous AA genotype) and not in all the unaffected ones except one individual. The mutation c.517 G>A p.E173K is associated with disease causing in this pedigree. And the possible genetic model is recessive inheritance. One apparently unaffected individual had mutations and haplotypes identical to her affected sibs suggested incomplete penetrance in this pedigree.