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Rahat Perveen, I. Christopher Lloyd, Jill Clayton–Smith, Amanda Churchill, Veronica van Heyningen, Isabel Hanson, David Taylor, Carole McKeown, Maurice Super, Bronwyn Kerr, Robin Winter, Graeme C. M. Black; Phenotypic Variability and Asymmetry of Rieger Syndrome Associated with PITX2 Mutations. Invest. Ophthalmol. Vis. Sci. 2000;41(9):2456-2460.
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purpose. Rieger syndrome is an autosomal dominant condition characterized by a
variable combination of anterior segment dysgenesis, dental anomalies,
and umbilical hernia. To date, reports have shown mutations within the PITX2 gene associated with Rieger syndrome,
iridogoniodysgenesis, and iris hypoplasia. The purposes of this study
were to determine the range of expression and intrafamilial variability
of PITX2 mutations in patients with anterior segment
methods. Seventy-six patients with different forms of anterior segment
dysgenesis were classified clinically. DNA was obtained and screened by
means of polymerase chain reaction (PCR)–single-stranded conformation
polymorphism (SSCP) and heteroduplex analysis followed by direct
results. Eight of 76 patients had mutations within the PITX2 gene.
Anterior segment phenotypes show wide variability and include a
phenocopy of aniridia and Peters’, Rieger, and Axenfeld
anomalies. Mutations include premature terminations and splice-site and
homeobox mutations, confirming that haploinsufficiency the likely
pathogenic mechanism in the majority of cases.
conclusions. There is significant phenotypic variability in patients with PITX2 mutations, both within and between families.
Developmental glaucoma is common. The umbilical and dental
abnormalities are highly penetrant, define those at risk of carrying
mutations in this gene, and guide mutation analysis. In addition, there
is a range of other extraocular
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