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Eur J Hum Genet. 1999 Apr;7(3):363-7.

A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2.

Author information

1
Laboratoire d'Immunologie et de Biologie Moléculaire, Faculté de Médecine, Sfax, Tunisia.

Abstract

Usher type II syndrome is defined by the association of retinitis pigmentosa, appearing in the late second to early third decade of life, with congenital moderate to severe non-progressive hearing loss. This double sensory impairment is not accompanied by vestibular dysfunction. To date, only one Usher type II locus, USH2A, at chromosome band 1q41, has been defined. Here, we demonstrate by linkage analysis, that the gene responsible for Usher type II syndrome in a Tunisian consanguineous family maps to chromosome 3 at position p23-24.2, thus providing definitive evidence for the genetic heterogeneity of the syndrome. A maximum lod score of 4.3 was obtained with the polymorphic microsatellite markers corresponding to loci D3S1578, D3S3647 and D3S3658. This maps the gene underlying USH2B to a chromosomal region which overlaps the interval defined for the non-syndromic sensorineural recessive deafness DFNB6, raising the possibility that a single gene underlies both defects. However, the audiometric features in the patients affected by USH2B and DFNB6 are very different.

PMID:
10234513
DOI:
10.1038/sj.ejhg.5200307
[Indexed for MEDLINE]
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