%602594
Table of Contents
Cytogenetic location: 16p12.3-p12.1 Genomic coordinates (GRCh38): 16:16,700,001-28,500,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 16p12.3-p12.1 | Retinitis pigmentosa 22 | 602594 | 2 |
For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Finckh et al. (1998) collected DNA samples from 20 large consanguineous Indian families in which autosomal recessive retinitis pigmentosa (arRP) segregated and that were suitable for homozygosity mapping of the disease locus. After excluding linkage to all known arRP loci, a genomewide scan was initiated. In 2 families, homozygosity mapping, haplotype analysis, and linkage data mapped the disease locus (RP22) in an approximately 16-cM region between D16S287 and D16S420 on the proximal short arm of chromosome 16. The location of RP22 was given as 16p12.3-p12.1.
By direct sequencing, Finckh et al. (1998) found no mutation in the CRYM gene (123740), which encodes mu crystallin and maps to the same region.
Finckh, U., Xu, S., Kumaramanickavel, G., Schurmann, M., Mukkadan, J. K., Fernandez, S. T., John, S., Weber, J. L., Denton, M. J., Gal, A. Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3. Genomics 48: 341-345, 1998. [PubMed: 9545639, related citations] [Full Text]
ORPHA: 791; DO: 0110400;
Cytogenetic location: 16p12.3-p12.1 Genomic coordinates (GRCh38): 16:16,700,001-28,500,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 16p12.3-p12.1 | Retinitis pigmentosa 22 | 602594 | 2 |
For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Finckh et al. (1998) collected DNA samples from 20 large consanguineous Indian families in which autosomal recessive retinitis pigmentosa (arRP) segregated and that were suitable for homozygosity mapping of the disease locus. After excluding linkage to all known arRP loci, a genomewide scan was initiated. In 2 families, homozygosity mapping, haplotype analysis, and linkage data mapped the disease locus (RP22) in an approximately 16-cM region between D16S287 and D16S420 on the proximal short arm of chromosome 16. The location of RP22 was given as 16p12.3-p12.1.
By direct sequencing, Finckh et al. (1998) found no mutation in the CRYM gene (123740), which encodes mu crystallin and maps to the same region.
Finckh, U., Xu, S., Kumaramanickavel, G., Schurmann, M., Mukkadan, J. K., Fernandez, S. T., John, S., Weber, J. L., Denton, M. J., Gal, A. Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3. Genomics 48: 341-345, 1998. [PubMed: 9545639] [Full Text: https://doi.org/10.1006/geno.1997.5194]
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