[A novel mutation of CYP1B1 gene in primary congenital glaucoma].
OBJECTIVE
To investigate the distribution of the CYP1B1 (Cytochrome P450, family 1, subfamily B, polypeptide 1) gene mutations in primary congenital glaucoma (PCG) in Hunan Province.


METHODS
Case-control study. Thirteen cases of PCG from different districts of Hunan province were collected in this study. Direct sequencing was used to evaluate the coding and the promoter regions of the CYP1B1 gene in PCG patients.


RESULTS
A novel pathogenic mutation (c.C319G, L107V) was identified in a PCG patient in our study and it was a missense mutation in exon 2. Additionally, four single nucleotide polymorphisms(SNPs) were found in PCG patients, including R48G, A119S, V432L and D449D.


CONCLUSIONS
A novel CYP1B1 gene mutation (L107V) may be the cause for primary congenital glaucoma in Hunan Province.
Huang
Ju-fang
JF
Department of Anatomy and Neurobiology, Xiangya School of Medicine, Central South University, Changsha 410078, China. jufanghuang@yahoo.com.cn
Zhou
Jin
J
Wang
Hui
H
Chen
Dan
D
Zeng
Le-ping
LP
Tong
Jian-bin
JB
Xia
Xiao-bo
XB
Hu
Zheng-mao
ZM
D001189:Aryl Hydrocarbon Hydroxylases; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D065633:Cytochrome P-450 CYP1B1; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D005260:Female; D005901:Glaucoma / Q000151:congenital / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation
D003577:Cytochrome P-450 Enzyme System; D001189:Aryl Hydrocarbon Hydroxylases; C585496:CYP1B1 protein, human; D065633:Cytochrome P-450 CYP1B1