Autosomal dominant cataracts and Peters anomaly in a large Australian family
Autor: | S J, Withers, G A, Gole, K M, Summers |
---|---|
Rok vydání: | 1999 |
Předmět: |
Adult
Aged 80 and over Genetic Markers Homeodomain Proteins Male PAX6 Transcription Factor Genetic Linkage Chromosomes Human Pair 11 Australia Middle Aged Cataract Pedigree DNA-Binding Proteins Repressor Proteins Corneal Opacity Phenotype Child Preschool Humans Paired Box Transcription Factors Female Eye Proteins Aged Genes Dominant Microsatellite Repeats |
Zdroj: | Clinical genetics. 55(4) |
ISSN: | 0009-9163 |
Popis: | Peters anomaly is a congenital corneal opacity with underlying defects in the posterior stroma, Descemets membrane and corneal endothelium. It is a disorder resulting from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris. We report a family in which anterior segment abnormalities, including Peters anomaly and cataracts, were inherited in an autosomal dominant fashion. Although the PAX6 gene on chromosome 11 has been shown to be involved in some cases of anterior segment developmental defects, we found no evidence that the condition in this family is linked to the PAX6 gene. Identification of this gene will indicate another gene with major involvement in the development of the anterior segment of the eye. |
Databáze: | OpenAIRE |
Externí odkaz: |