ORPHA: 231169, 886; DO: 0110833;
Cytogenetic location: 21q21 Genomic coordinates (GRCh38): 21:15,000,001-30,200,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 21q21 | Usher syndrome, type 1E | 602097 | Autosomal recessive | 2 |
Usher syndrome type I an autosomal recessive disorder characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa, and constant vestibular dysfunction (summary by Chaib et al., 1997).
For a discussion of genetic heterogeneity of USH type I, see 276900.
Using homozygosity mapping in a consanguineous family in Morocco, Chaib et al. (1997) identified a genetically distinct form, which they called USH1E and mapped to 21q21. The delimited 15-cM interval was flanked by D21S1905 and D21S1913.
Chaib, H., Kaplan, J., Gerber, S., Vincent, C., Ayadi, H., Slim, R., Munnich, A., Weissenbach, J., Petit, C. A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. Hum. Molec. Genet. 6: 27-31, 1997. [PubMed: 9002666] [Full Text: https://doi.org/10.1093/hmg/6.1.27]