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Background At least half of the cases of profound deafness of early onset are caused by genetic factors, but few of the genetic defects have been identified. This is particularly true of the most common hereditary forms of deafness, which occur in the absence of any associated syndrome.
Methods We studied a large Indonesian family in which hearing loss was inherited in an autosomal dominant pattern. The hearing loss first affects the high frequencies during the teens or 20s and becomes profound within 10 years. To locate the responsible gene, we performed genetic-linkage analysis, using microsatellite markers distributed over the entire genome. We then performed linkage analyses in an American family and a Dutch family with similar patterns of hereditary hearing loss.
Results In the extended Indonesian family, a gene linked to deafness mapped to chromosome 1p, with a multipoint lod score of more than 7. In the American family, deafness was linked to the same locus on chromosome 1p, with a multipoint lod score of more than 5. In the Dutch family, however, this locus was ruled out. The flanking markers D1S255 and D1S211 defined a region of 6 cM on chromosome 1p that is likely to contain the gene associated with deafness in the first two families.
Conclusions In some families with early-onset autosomal dominant hearing loss, the responsible gene is on chromosome 1p. .
Source Information
From the Departments of Medical Genetics (P.C., G.V.C., J.K.D., P.J.W.) and Otorhinolaryngology (P.V.H.), University of Antwerp, Antwerp, Belgium; the Ear, Nose, and Throat Department, Padjadjaran University Medical School, Bandung, Indonesia (B.D.); the Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Boys Town, Nebr. (S.D.S., W.J.K.); the Department of Human Genetics, Medical Genetics Center, Leiden University, Leiden, the Netherlands (R.R.F.); the Department of Neurology (G.W.P.), and the Ear, Nose, and Throat Department (C.W.R.J.C.), Academic Hospital Nijmegen, Nijmegen, the Netherlands; the Ear, Nose, and Throat Department, Academic Hospital Utrecht, Utrecht, the Netherlands (E.H.H.); and the Department of Clinical Genetics, Erasmus University, Rotterdam, the Netherlands (B.A.O.).
Address reprint requests to Dr. Van Camp at the Department of Medical Genetics, University of Antwerp-UIA, Universiteitsplein 1, 2610 Antwerp, Belgium.
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