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Abstract #8594 Published in IGR 5-1
A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco
Belmouden A; Melki R; Hamdani M; Zaghloul K; Amraoui A; Nadifi S; Akhayat O; Garchon HJClinical Genetics 2002; 62: 334-339
Primary congenital glaucoma (PCG) is a heterogeneous autosomal recessive disorder caused by unknown developmental defect(s) of the anterior chamber of the eye. A member of the cytochrome P450 gene family, CYP1B1, was found to be mutated in PCG patients in different populations, albeit to a variable extent. In this study, CYP1B1 mutations were searched for in 32 unrelated PCG patients from Morocco. Two mutations were detected in 11 (34%) patients. One, 4339delG, is novel and causes a frameshift at residue 179. The other, G61E, has previously been found in patients from Turkey and Saudi Arabia. Seven patients were homozygous for 4339delG and two others for G61E, while the two remaining patients were compound heterozygotes. The close association of 4339delG with a rare allele of D2S177, a microsatellite marker located 270 kb upstream of CYP1B1, strongly suggested a founder effect for 4339delG. The occurrence of this mutation was tentatively dated at between 900 and 1700 years ago. Typing 4339delG and G61E mutations should help to prevent blindness resulting from a delayed diagnosis of PCG in Morocco.
Dr. H.J. Garchon, INSERM U25, Hopital Necker, 161 rue de Sevres, 75743 Paris Cedex 15, Morocco. garchon@necker.fr
Classification:
1.2 Population genetics (Part of: 1 General aspects)
9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
