title: CYP1B1 gene mutations with incomplete penetrance in a Chinese pedigree with primary congenital glaucoma: a case report and review of literatures.
abstract: 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.
authors.affiliation: Shenzhen Eye Hospital, Shenzhen Key Laboratory of Ophthalmology, Affiliated Shenzhen Eye Hospital of Jinan University Shenzhen, P. R. China.
authors.forename: Ling
authors.initials: L
authors.lastname: Chen
authors.affiliation: Shenzhen Eye Hospital, Shenzhen Key Laboratory of Ophthalmology, Affiliated Shenzhen Eye Hospital of Jinan University Shenzhen, P. R. China ; Huaxia Shenzhen Eye Hospital Affiliated Medical College of Xiamen University Shenzhen, P. R. China.
authors.forename: Lina
authors.initials: L
authors.lastname: Huang
authors.affiliation: Shenzhen Eye Hospital, Shenzhen Key Laboratory of Ophthalmology, Affiliated Shenzhen Eye Hospital of Jinan University Shenzhen, P. R. China.
authors.forename: Aineng
authors.initials: A
authors.lastname: Zeng
authors.affiliation: Shenzhen Eye Hospital, Shenzhen Key Laboratory of Ophthalmology, Affiliated Shenzhen Eye Hospital of Jinan University Shenzhen, P. R. China.
authors.forename: Jing
authors.initials: J
authors.lastname: He
keywords: CYP1B1 gene; Chinese pedigree; incomplete penetrance; primary congenital glaucoma