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Published on: January 26, 2018
Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma
Mei Yang1, Xiangming Guo, Xing Liu
1State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, PR China.
Insights
Genetic analysis of Chinese primary congenital glaucoma (PCG) patients revealed six CYP1B1 gene mutations, including four novel ones. The R390H mutation is a predominant allele in Chinese PCG.
Area of Science:
- Ophthalmology
- Genetics
Background:
- Primary congenital glaucoma (PCG) is a severe inherited eye disease.
- The cytochrome P450 gene (CYP1B1) is a known major gene associated with PCG.
Purpose of the Study:
- To investigate the mutation spectrum of the CYP1B1 gene in Chinese patients diagnosed with PCG.
- Identify novel mutations and characterize the prevalence of known mutations within this population.
Main Methods:
- Polymerase chain reaction (PCR) and heteroduplex analysis-single strand conformation polymorphism (HA-SSCP) were used to analyze CYP1B1 coding regions in 41 PCG patients.
- Subsequent cloning, bidirectional sequencing, and restriction fragment length polymorphism (RFLP) analysis in controls were performed.
Main Results:
- Six distinct CYP1B1 mutations were identified in 14.6% of Chinese PCG patients.
- Four novel mutations (g.4531_4552del22bp, g.4633delC, p.S336Y, p.I471S) and two known mutations (R469W, R390H) were found.
- The R390H mutation was present in 9.8% of patients, and none of the novel mutations were detected in 80 healthy controls.
Conclusions:
- CYP1B1 mutations are a significant cause of PCG in the Chinese population, accounting for approximately one in six cases.
- The R390H mutation represents a predominant CYP1B1 allele in Chinese PCG patients.
- Targeted screening of CYP1B1, particularly for the R390H mutation, is crucial for diagnosing Chinese PCG patients.
Purpose:
This study was conducted to investigate the mutation spectrum of the cytochrome P450 gene (CYP1B1) in Chinese patients with primary congenital glaucoma (PCG).
Methods:
The coding regions of CYP1B1 from 41 Chinese PCG patients were analyzed using polymerase chain reaction (PCR) and heteroduplex analysis-single strand conformation polymorphism (HA-SSCP) followed by subsequent cloning and bidirectional sequencing. New variants were confirmed by restriction fragment length polymorphism (RFLP) analysis in 80 normal Chinese controls.
Results:
Six distinct mutations, four of which are novel, were identified in 14.6% (6/41) of all patients. The CYP1B1 mutations in two patients were homozygous, and the other four patients were compound heterozygous. Beyond the four novel mutations (g.4531_4552del22bp, g.4633delC, p.S336Y, and p.I471S), two reported missense mutations (R469W and R390H) were also identified. The missense mutation, R390H, was involved in 9.8% (4/41) of patients in our study. None of the novel mutations was observed in any of the 80 controls.
Conclusions:
Our results support the premise that CYP1B1 is a major gene for PCG, appearing to be responsible for the disease in roughly one in six Chinese PCG patients. The R390H mutation was identified as a predominant CYP1B1 allele among the Chinese PCG patients in our study. This observation emphasizes the importance of mutational screening of CYP1B1, especially for the R390H mutation in Chinese patients.
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