Alternative titles; symbols
ORPHA: 1871; DO: 0111006;
Cytogenetic location: Xq27 Genomic coordinates (GRCh38): X:138,900,001-148,000,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| Xq27 | Cone dystrophy, progressive X-linked, 2 | 300085 | X-linked | 2 |
For a phenotypic description and a discussion of genetic heterogeneity of X-linked cone-rod dystrophy, see 304020.
In a family with X-linked progressive cone dystrophy described by Pinckers and Timmerman (1981), Bergen and Pinckers (1997) found linkage to the Xq27 region. Two-point linkage analysis with different combinations of several distinct markers along the entire X chromosome resulted in low or negative lod scores along the chromosome, except for the Xq27 region. Similarly, multipoint linkage analysis with different combinations of markers yielded negative multipoint lod scores along the entire chromosome, except for marker combinations in the Xq27 region, thus establishing a distinction from other forms of progressive cone dystrophy, particularly CORDX1 (304020), which maps to Xp. Multipoint linkage analysis suggested that the COD2 locus is between markers DXS292 and DXS1113, with a maximum multipoint lod score of 10.8 at DXS1123.
Bergen, A. A. B., Pinckers, A. J. L. G. Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity. Am. J. Hum. Genet. 60: 1468-1473, 1997. Note: Erratum: Am. J. Hum. Genet. 61: 471 only, 1997. [PubMed: 9199568] [Full Text: https://doi.org/10.1086/515458]
Pinckers, A., Timmerman, G. J. M. E. N. Sex-difference in progressive cone dystrophy. I. Ophthalmic Paediat. Genet. 1: 17-24, 1981.