CYP1B1 Gene Mutations Causing Primary Congenital Glaucoma in Tunisia
Article first published online: 18 JUN 2014
© 2014 John Wiley & Sons Ltd/University College London
Annals of Human Genetics
Volume 78, Issue 4, pages 255–263, July 2014
How to Cite
Bouyacoub, Y., Ben Yahia, S., Abroug, N., Kahloun, R., Kefi, R., Khairallah, M. and Abdelhak, S. (2014), CYP1B1 Gene Mutations Causing Primary Congenital Glaucoma in Tunisia. Annals of Human Genetics, 78: 255–263. doi: 10.1111/ahg.12069
- Issue published online: 18 JUN 2014
- Article first published online: 18 JUN 2014
- Manuscript Accepted: 15 APR 2014
- Manuscript Received: 12 JAN 2014
- CYP1B1 gene;
- primary congenital glaucoma;
- Tunisian patients
Primary congenital glaucoma (PCG) is responsible for a significant proportion of childhood blindness in Tunisia. Early prevention based on genetic diagnosis is therefore required. This study sought to determine the frequency of CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1) mutations in 18 PCG patients, recruited from Central and Southern of Tunisia.
Genomic DNA was extracted and the coding regions of CYP1B1 were analysed by direct sequencing. A phylogenetic network of CYP1B1 haplotypes was drawn using the median-joining algorithm.
Sequence analysis revealed a “tetra-allelic mutation” (two novel mutations, p.F231I and p.P437A in the homozygous state) in one patient. The healthy members of his family carried those variations on the same allele. Two previously described mutations p.G61E and c.535delG were also identified in the homozygous state in seven and two probands, respectively. Seven single-nucleotide polymorphisms were identified and used to generate haplotypes.
Our results showed that the CYP1B1 mutations were present in 55% of Tunisian PCG patients’ alleles. Haplotype analysis allowed us to define the proto-haplotype and to confirm historical migratory flows. Establishment of PCG genetic aetiology in Tunisia will improve genetic diagnosis and counselling.