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HNO. 2008 Feb;56(2):177-82.

[A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15].

[Article in German]

Author information

1
Abteilung für klinische Chemie, Universität Jena.

Abstract

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.

CONCLUSION:

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.

PMID:
18066515
DOI:
10.1007/s00106-007-1633-6
[Indexed for MEDLINE]

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