CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma.
OBJECTIVE
To clinically characterize 116 Chinese patients with primary congenital glaucoma and to determine the role of CYP1B1 and MYOC mutations in this cohort.


METHODS
This study included 116 unrelated patients with primary congenital glaucoma and 120 ethnically matched, unrelated, healthy controls in China. CYP1B1 and MYOC were amplified from genomic DNA, followed by direct DNA sequencing to identify disease-causing variants.


RESULTS
Twenty patients (17.2%) had CYP1B1 mutations. Five of these patients had homozygous mutant alleles and 4 had compound heterozygous mutations. Fourteen of the mutations were novel. Three patients (2.6%) had MYOC mutations, all of which were novel.


CONCLUSIONS
This study describes the spectrum of CYP1B1 and MYOC mutations in a large cohort of Chinese patients with primary congenital glaucoma. The role of mutations in CYP1B1 and MYOC varies, depending on the ethnic origin of the patients. Clinical Relevance Patients with primary congenital glaucoma and CYP1B1 mutations tend to have a more severe phenotype than those without mutations. Genetic testing of CYP1B1 mutations may help predict new cases and their prognoses.
Department of Ophthalmology and Vision Science, Eye and Ear Nose Throat Hospital, Shanghai Medical School, Fudan University, Shanghai, China.
Yuhong
Y
Chen
Deke
D
Jiang
Long
L
Yu
Bradley
B
Katz
Kang
K
Zhang
Bo
B
Wan
Xinghuai
X
Sun
D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D017668:Age of Onset; D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D065633:Cytochrome P-450 CYP1B1; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005901:Glaucoma / Q000151:congenital* / Q000175:diagnosis / Q000453:epidemiology*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D015994:Incidence; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D018570:Risk Assessment; D017678:Sex Distribution; D000099179:Myocilin
D001189:Aryl Hydrocarbon Hydroxylases; D065633:Cytochrome P-450 CYP1B1; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin; C585496:CYP1B1 protein, human