Abstract
Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder. ARS is considered to be fully penetrant, but variable expressivity was reported in families. The three cardinal features of ARS include specific ocular anomalies of the anterior segment, dental anomalies and redundant periumbilical skin. A variety of other abnormalities have been reported in ARS patients such as pituitary, hearing, heart and limb defects that may represent coincidental findings in some cases and be associated with specific mutations in others. Identification of genes and chromosomal regions associated with ARS demonstrated extreme genetic heterogeneity of this condition and allowed genotype-phenotype correlation studies. In this chapter, we describe identification of a gene, PITX2, which to-date represents a major gene for Axenfeld-Rieger syndrome accounting for approximately 40% of mutations in classic ARS patients. The PITX2 gene was discovered by positional cloning approach and is located at 4q25 in humans. The PITX2 gene appears to play an important role in development of many different systems and its involvement in human disorders needs to be further elucidated.
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Semina, E.V. (2005). Identification of the Gene Involved in 4q25-Linked Axenfeld-Rieger Syndrome, PITX2 . In: The Molecular Mechanisms of Axenfeld-Rieger Syndrome. Medical Intelligence Unit. Springer, Boston, MA. https://doi.org/10.1007/0-387-28672-1_1
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DOI: https://doi.org/10.1007/0-387-28672-1_1
Publisher Name: Springer, Boston, MA
Print ISBN: 978-0-387-26222-2
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