The Molecular Mechanisms of Axenfeld-Rieger Syndrome by Brad A. Amendt Ph.D. (auth.)

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By Brad A. Amendt Ph.D. (auth.)

The Molecular Mechanisms of Axenfeld-Rieger Syndrome describes the present study and medical findings of the heterogeneous ailment termed Axenfeld-Rieger Syndrome (ARS). The publication offers an in-depth research of this phenotypic various illness and is designed to aspect the present molecular and biochemical examine concerned about learning genetic defects. This e-book brings jointly the whole research of a human genetic illness utilizing people, mouse and chick epigenetic and genetic reports, mixed with mobile tradition and in vitro analyses. it's a finished learn of a distinct set of genes and their mutant actions. A molecular foundation for the genetic and phenotypic anomalies saw in ARS sufferers is equipped, with particularly certain descriptions of eye, teeth, and center development.

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Extra info for The Molecular Mechanisms of Axenfeld-Rieger Syndrome

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Chromosome Analysis Conventional cytogenetic chromosome analysis showed a normal female karyotype AGX^. Fish (fluorescent in-situ hybridization) analysis with a probe for the PAX6gtnt showed a deletion encompassing the PAX6 gene on one homologue of the PAX6 gene on chromosome 11 (Fig. 6). The deletion did not include the Wilms tumor gene. Neither parent had deletion of the PAX6 gene. This patient matched clinically with a typical Rieger syndrome, with the ocular, dental and umbilical anomalies.

Am J Hum Genet 1997; 61(1):111-119. 3. Gould DB, Meats AJ, Pearce WG et al. Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25 [letter]. Am J Hum Genet 1997; 61(3):765-768. 4. Jordan T, Ebenezer N, Manners R et al. Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly. Am J Hum Genet 1997; 61(4):882-888. 5. Morissette J, Falardeau P, Dubois S et al. A common gene for developmental and familial open-angle glaucomas confined on chromosome 6p25.

Figure 5. Umbilical anomalies. ^^ in our patient. This is an anomaly that has not been described in other cases of the Rieger syndrome unless the Rieger syndrome case with microcornea published by Frandsen in reality represented a microphthalmic eye since ultrasoimd examination was not available. ^^ It is not surprising that a mutation in the 7MX6^gene, which is central for eye morphogenesis and evolution, could involve microphthalmos. PAX6 mutations and deletions may also result in for example Peters' anomaly^ ^ and aniridia.

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