1. Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family
- Author
-
K. Weipoltshammer, Franz Wachtler, P. Franz, Denise M. Hoover, J. B. Kenyon, Karin Kirschhofer, and William J. Kimberling
- Subjects
medicine.medical_specialty ,Genetic Linkage ,Hearing loss ,Hearing Loss, Sensorineural ,Biology ,Audiology ,GPI-Linked Proteins ,Gene mapping ,Genetic linkage ,otorhinolaryngologic diseases ,Genetics ,medicine ,Humans ,Molecular Biology ,Gene ,health care economics and organizations ,Genetics (clinical) ,Genes, Dominant ,Family Health ,Linkage (software) ,Family health ,Extracellular Matrix Proteins ,Membrane Glycoproteins ,Chromosomes, Human, Pair 11 ,Hearing Tests ,Chromosome ,medicine.disease ,Pedigree ,Austria ,Sensorineural hearing loss ,medicine.symptom ,geographic locations - Abstract
A four-generation family suffering from an autosomal-dominant, congenital, nonprogressive, nonsyndromic hearing loss was found in a rural region of Austria. The hearing loss was moderate to severe, a pure tone audiogram showing a U-shaped form with maximum loss at 2,000 Hz. An initial genome search led to a lod score of 3.01 with markers on chromosome 15. This locus was registered as DFNA8 in the HUGO data base. Further sampling of the family, however, yielded data that reduced the maximal lod score with chromosome 15 markers to 1.81. The genome search was restarted using an ABITM genotyper, which eventually detected several positive two-point lod scores with markers from the long arm of chromosome 11. The highest value was 3.6, which was seen with the marker D11S934. Haplotype analysis excluded the gene from the chromosomal region proximal from D11S898 and distal to D11S1309. These results place the gene in the region of the hearing loss gene DFNA12. Recent evidence suggests that the somewhat different phenotypes found in these two families are due to two different mutations in the human α-tectorine gene (Verhoeven et al., 1998).
- Published
- 1998