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Journal of Medical Genetics 2000;37:256-262; doi:10.1136/jmg.37.4.256
Copyright © 2000 by the BMJ Publishing Group Ltd.
J Med Genet 2000;37:256-262 ( April )

Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q

S Pieke-Dahla, C G Möllerb, P M Kelleya, L M Astutoa, C W R J Cremersc, M B Gorind, W J Kimberlinga

a Genetics Department, Boys Town National Research Hospital, 555 N 30th Street, Omaha, NE 68131 USA, b Department of Audiology, Sahlgrenska University Hospital, Götebörg, Sweden, c Department of Oto-Rhino-Laryngology, University Hospital, Nijmegan, The Netherlands, d Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA

Correspondence to: Dr Kimberling, kimber{at}boystown.org

Revised version received 10 September 1999; Accepted for publication 1 December 1999

Usher syndrome is a group of autosomal recessive disorders that includes retinitis pigmentosa (RP) with hearing loss. Usher syndrome type II is defined as moderate to severe hearing loss with RP. The USH2A gene at 1q41 has been isolated and characterised. In 1993, a large Usher II family affected with a mild form of RP was found to be unlinked to 1q41 markers. Subsequent linkage studies of families in our Usher series identified several type II families unlinked to USH2A and USH3 on 3q25. After a second unlinked family with many affected members and a mild retinal phenotype was discovered, a genome search using these two large families showed another Usher II locus on 5q (two point lod = 3.1 at D5S484). To date, we have identified nine unrelated 5q linked families (maximum combined multipoint lod = 5.86) as well as three Usher II families that show no significant linkage to any known Usher loci. Haplotype analysis of 5q markers indicates that the new locus is flanked by D5S428 and D5S433. Review of ophthalmological data suggests that RP symptoms are milder in 5q linked families; the RP is often not diagnosed until patients near their third decade. Enamel hypoplasia and severe, very early onset RP were observed in two of the three unlinked families; dental anomalies have not been previously described as a feature of Usher type II.


Keywords: Usher syndrome; chromosome 5q; retinitis pigmentosa; hearing loss

© 2000 by J Med Genet
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