Human Molecular Genetics, Vol 6, 641-647, Copyright © 1997 by Oxford University Press
I Stoilov, AN Akarsu and M Sarfarazi
Primary congenital glaucoma (Buphthalmos) is an autosomal recessive eye
disorder, postulated to result from developmental defects in the anterior
eye segment. Previously, we reported two chromosomal locations for this
condition on 2p21 (GLC3A) and 1p36 (GLC3B) respectively. In this study,
heritable mutations of human cytochrome P4501B1 gene (CYP1B1) in affected
individuals of five well-characterized families linked to the GLC3A locus
are described. CYP1B1 gene has previously been mapped within the GLC3A
candidate region and its expression in the trabecular meshwork cells has
been demonstrated in this study. Three different homozygous mutations were
identified and characterized: a 13 bp deletion in exon III; an insertion of
a single cytosine base in exon II; and a larger deletion affecting the 5'
end of exon III and the adjacent intronic region. All of these are
frameshift mutations that are predicted to remove domains essential for the
function of the CYP1B1 protein. Therefore, it is expected that all these
mutations result in functional null alleles. The mutations detected in the
affected members of these families were not present in 470 chromosomes from
randomly selected normal individuals, thus strongly suggesting that CYP1B1
is the gene for the GLC3A locus on 2p21. The results are discussed in the
context of the earlier hypothesis that 'drug- metabolizing' enzymes might
modulate the processes of growth and differentiation by controlling the
steady-state-levels of oxygenated growth-effector molecules.
ARTICLES
Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21
Department of Surgery, University of Connecticut Health Center, Farmington, USA.
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