[A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15].
BACKGROUND
Non-syndromic hearing loss is the most genetically heterogeneous trait known in humans. To date, 54 loci for autosomal dominant non-syndromic sensorineural hearing loss (NSSHL) have been identified by linkage analysis.


METHODS
In this study a German pedigree has been identified segregating a progressive bilateral loss of lower and middle frequencies.


RESULTS
A genome-wide screening and linkage analysis revealed the existence of a new NSSHL locus (DFNA57). The phenotype was mapped to a 10 degrees Mbp interval on chromosome 19p13.2 from 7.8 to 18.2 degrees Mbp, a maximum 2-point LOD score of 3.08 was obtained for the marker D19S586. The region overlaps with the recessive locus DFNB15.


CONCLUSIONS
The results underline the heterogeneity of hereditary hearing disorders. Identification of genes can help to reach a better understanding of the molecular mechanism of hearing.
Bönsch
D
D
Abteilung für klinische Chemie, Universität Jena.
Schmidt
C M
CM
Scheer
P
P
Bohlender
J
J
Neumann
C
C
am Zehnhoff-Dinnesen
A
A
Deufel
T
T
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001301:Audiometry, Pure-Tone; D002648:Child; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005799:Genes, Dominant; D005808:Genes, Recessive; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D006312:Hearing Loss, Bilateral / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D017084:Otoacoustic Emissions, Spontaneous / Q000235:genetics; D010375:Pedigree; D010641:Phenotype
D005819:Genetic Markers