Abstract | PURPOSE: METHODS: We screened these three genes in 21 families with congenital esotropia using single stranded conformational polymorphism analysis. RESULTS: No rare sequence variants segregating with esoptopia were detected. A novel silent mutation of the TYRP1 gene was identified in one pedigree but is not likely to be causative. Several previously reported common polymorphisms were detected but do not segregate with disease in this population. CONCLUSIONS: Rare mutations of these genes do not appear to be responsible for congenital esotropia. Although we found no evidence for segregation of common variants with disease, these require further investigation for a possible contribution to a complex threshold model. Several lines of evidence indicate a genetic componenet of congenital esotropia, however, this is the first investigation of candidate genes for this disorder.
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Authors | Kathryn P Burdon, Robin M Wilkinson, Julie M Barbour, Joanne L Dickinson, James M Stankovich, David A Mackey, Michele M Sale |
Journal | Molecular vision
(Mol Vis)
Vol. 9
Pg. 710-4
(Dec 16 2003)
ISSN: 1090-0535 [Electronic] United States |
PMID | 14685142
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Carrier Proteins
- DNA Primers
- Membrane Glycoproteins
- Membrane Proteins
- Membrane Transport Proteins
- OCA2 protein, human
- Proteins
- Oxidoreductases
- TYRP1 protein, human
- tyrosinase-related protein-1
- Monophenol Monooxygenase
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Topics |
- Albinism, Oculocutaneous
(genetics)
- Carrier Proteins
(genetics)
- DNA Primers
(chemistry)
- Esotropia
(congenital)
- Humans
- Membrane Glycoproteins
- Membrane Proteins
(genetics)
- Membrane Transport Proteins
- Monophenol Monooxygenase
(genetics)
- Mutation
- Oxidoreductases
- Polymorphism, Restriction Fragment Length
- Polymorphism, Single-Stranded Conformational
- Proteins
(genetics)
- Sequence Analysis, DNA
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