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CYP1B1 gene analysis and phenotypic correlation in Portuguese children with primary congenital glaucoma
Mariana S Cardoso1, Rita Anjos2, Luísa Vieira2
1Department of Ophthalmology, Centro Hospitalar do Baixo Vouga, Aveiro - Portugal.
Insights
Genetic analysis revealed CYP1B1 mutations in 28.57% of Portuguese children with primary congenital glaucoma (PCG). Mutations were linked to bilateral PCG and earlier diagnosis, highlighting the importance of genetic testing for PCG.
Area of Science:
- Ophthalmology
- Medical Genetics
- Molecular Biology
Background:
- Primary congenital glaucoma (PCG) is a severe inherited eye condition.
- Mutations in the CYP1B1 gene are a known cause of PCG.
- Understanding genetic factors is crucial for diagnosis and management.
Purpose of the Study:
- To determine the prevalence of CYP1B1 gene mutations in Portuguese children diagnosed with PCG.
- To explore potential correlations between CYP1B1 mutation status and clinical manifestations of PCG.
Main Methods:
- DNA sequencing was employed to analyze the CYP1B1 gene in 21 Portuguese children with PCG.
- Clinical data including age at diagnosis, disease bilaterality, surgical outcomes, and visual acuity were collected.
- Genotype-phenotype correlations were assessed.
Main Results:
- CYP1B1 mutations were identified in 6 patients (28.57%), all presenting as compound heterozygotes.
- Seven distinct mutations were found, including two novel ones.
- Patients with mutations showed a higher incidence of bilateral PCG and a significantly earlier age at diagnosis compared to those without mutations.
Conclusions:
- This study is the first to document the spectrum of CYP1B1 mutations in Portuguese children with PCG.
- While a strong genotype-phenotype correlation is not yet established, mutations are associated with bilaterality and early diagnosis.
- Genetic analysis of CYP1B1 is recommended for PCG patients.
Purpose:
To investigate the prevalence of CYP1B1 mutations in Portuguese children with primary congenital glaucoma (PCG) and to study the possible correlations between the mutation status and clinical features of the disease.
Methods:
DNA sequencing analysis of the CYP1B1 gene was used to screen 21 children with PCG followed on Paediatric Ophthalmology and Medical Genetics consultations at D. Estefânia's Hospital (Centro Hospitalar de Lisboa Central, Portugal). The effect of mutations on the phenotype of the patients was also assessed. Presence and type of mutations in CYP1B1 gene, age at diagnosis, bilaterality, age at first surgery, postoperative intraocular pressure and corneal diameter, final visual acuity, number of surgical reinterventions, and number of antiglaucoma medications required postoperatively were noted.
Results:
Mutations in the CYP1B1 gene in 6 patients (28.57%) were detected, all compound heterozygotes. Seven types of mutations were identified: c.182G>A, c.317C>A, c.535delG, c.1064_1076del, c.1159G>A, c.1310C>T, and c.1390dupT. All patients with these mutations developed bilateral PCG, whereas in the group without mutations only 7 (46.67%) showed bilateral disease. Age at diagnosis was lower in the group of patients with these mutations (0.0 ± 0.00 vs 4.5 ± 2.63 months, p<0.01). In the remaining variables (age at first surgery, postoperative intraocular pressure and corneal diameter, final visual acuity, number of surgical reinterventions and antiglaucoma medications required postoperatively), no significant differences between the groups were detected (p>0.05 for all comparisons).
Conclusions:
This study is the first to report the variety of mutations in the CYP1B1 gene in a group of Portuguese children with PCG and to describe 2 new mutations. Genetic analysis of PCG must be carried out, although it has not yet been possible to establish a genotype-phenotype correlation, with the exception of bilaterality and early age at diagnosis.
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