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Prevalence of CYP1B1 mutations in Australian patients with primary congenial glaucoma


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Dimasi, DP, Hewitt, AW, Straga, T, Pater, J, MacKinnon, JR, Elder, JE, Casey, T, Mackey, DA and Craig, JE 2007 , 'Prevalence of CYP1B1 mutations in Australian patients with primary congenial glaucoma' , Clinical Genetics, vol. 72, no. 3 , pp. 255-260 , doi: 10.1111/j.1399-0004.2007.00864.x.

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Analysis of CYP1B1 in primary congenital glaucoma (PCG) patients
from various ethnic populations indicates that allelic heterogeneity is
high, and some mutations are population specific. No study has
previously reported the rate or spectrum of CYP1B1 mutations in
Australian PCG patients. The aim of this study is to determine the
frequency of CYP1B1 mutations in our predominately Caucasian,
Australian cohort of PCG cases. Thirty-seven probands were recruited
from South-Eastern Australia, along with 100 normal control subjects.
Genomic DNA was extracted and the coding regions of CYP1B1
analysed by direct sequencing. Sequence analysis identified 10 different
CYP1B1 disease-causing variants in eight probands (21.6%). Five
subjects were compound heterozygotes, two subjects heterozygous and
one homozygous for CYP1B1 mutations. Three missense mutations are
novel (D192Y, G329D, and P400S). None of the novel mutations
identified were found in normal controls. One normal control subject was
heterozygous for the previously reported CYP1B1 R368H mutation. Six
previously described probable polymorphisms were also identified.
Mutations in CYP1B1 account for approximately one in five PCG cases
from Australia. Our data also supported the high degree of allelic
heterogeneity seen in similar studies from other ethnic populations,
thereby underscoring the fact that other PCG-related genes remain to be

Item Type: Article
Authors/Creators:Dimasi, DP and Hewitt, AW and Straga, T and Pater, J and MacKinnon, JR and Elder, JE and Casey, T and Mackey, DA and Craig, JE
Keywords: cytochrome P4501B1 – GLC3A – primary infantile glaucoma
Journal or Publication Title: Clinical Genetics
Publisher: Blackwell Publishing
ISSN: 0009-9163
DOI / ID Number: 10.1111/j.1399-0004.2007.00864.x
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