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CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients

Primary congenital glaucoma (PCG) is an autosomal recessive disease, caused by unknown developmental defect(s) of the trabecular meshwork and anterior chamber angle. It manifests itself clinically during the neonatal or infantile period. The disease is characterised by high intraocular pressure (IOP), buphthalmos with corneal enlargement, and breaks in Descemet’s membrane.1

Two chromosomal locations for PCG on 2p21 (GLC3A, MIM 231300) and 1p36 (GLC3B) have been reported previously.2 Recently, a third locus (GLC3C) has been reported that maps to chromosome 14q24.3.3 The GLC3A locus colocalises to the CYP1B1 gene (MIM 601771) on chromosome 2p21. CYP1B1 encodes a dioxin inducible member of subfamily I of the cytochrome p450 protein superfamily. The human CYP1B1 gene consists of three exons of which the first is non-coding. The putative open reading frame starts in the second exon and is 1629 bp in length.4–6 Thirty-five distinctive mutations in CYP1B1 have been described in different ethnic groups and populations (table 1).7–10 In ethnically mixed populations, mutations were found in 20–30% of patients with PCG,11 whereas in consanguineous populations the prevalence increases to 85%.5,7,9 Ethnic differences and geographical variations may be associated with different mutation patterns. Descriptions of causative mutations of PCG in the Indonesian population have not been published so far. We therefore investigated the coding region of the CYP1B1 gene in patients from Europe and Indonesia, in order to find molecular information on PCG, and compared the findings between these two different populations.

View this table:

 Table 1 
Previously reported sequence changes of the CYP1B1 gene



Twenty-one index cases with a diagnosis of congenital glaucoma, 12 Indonesian (four Sundanese (fig 1), four Javanese, two Batak, two Indonesian-Chinese) and nine Europeans (five German, one Italian, one Hungarian, one English-American, one Turkish) were examined by either BL, RS, or SMA, and diagnosed …