Table 3 of El-Gayar, Mol Vis 2009; 15:1325-1331.

Table 3. CYP1B1 mutations associated with primary congenital glaucoma in Omani patients.


Family
number

Consanguinity		 Number of
affected
individuals

Gender

Mutations

Exon




Allele 1 Allele 2
1 No 1 Male p.R368H p.R368H III
2 Yes 4 Female p.D374N p.D374N III
3 Yes 1 Female p.G61E p.G61E II
4 Yes 2 Female p.E229K no mutation II
5 Yes 1 Male p.G61E p.R368H II/III
6 Yes 2 Male no mutation no mutation
7 Yes 3 Male p.D374N p.D374N III
8 Yes 4 Female p.G61E p.G61E II
9 Yes 1 Male p.R368H p.R368H III

Consanguinity was found in eight of the nine families (89%). In five families, more than one individual was affected. Molecular analysis of CYP1B1 permitted the identification of three causative mutations in seven of the nine index cases (78%).

El-Gayar, Mol Vis 2009; 15:1325-1331. http://www.molvis.org/molvis/v15/a140

©2009 Molecular Vision http://www.molvis.org/molvis/

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