Human Molecular Genetics, Vol 8, 409-412, Copyright © 1999 by Oxford University Press
M Mustapha, D Weil, S Chardenoux, S Elias, E El-Zir, JS Beckmann, J Loiselet and C Petit
In our efforts to identify new loci responsible for non-syndromic autosomal
recessive forms of deafness, DFNB loci, we have pursued the analysis of
large consanguineous affected families living in geographically isolated
areas. Here, we report on the study of a Lebanese family comprising nine
members presenting with a pre-lingual severe to profound sensorineural
isolated form of deafness. Linkage analysis led to the characterization of
a new locus, DFNB21, which was assigned to chromosome 11q23-25. Already
mapped to this chromosomal region was TECTA. This gene encodes
alpha-tectorin, a 2155 amino acid protein which is a component of the
tectorial membrane. This gene recently has been shown to be responsible for
a dominant form of deafness, DFNA8/12. Sequence analysis of the TECTA gene
in the DFNB21- affected family revealed a G to A transition in the donor
splice site (GT) of intron 9, predicted to lead to a truncated protein of
971 amino acids. This establishes that alpha-tectorin mutations can be
responsible for both dominant and recessive forms of deafness. Comparison
of the phenotype of the DFNB21 heterozygous carriers with that of
DFNA8/12-affected individuals supports the hypothesis that the TECTA
mutations which cause the dominant form of deafness have a
dominant-negative effect. The present results provide genetic evidence for
alpha-tectorin forming homo- or heteromeric structures.
ARTICLES
An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21
Unite de Genetique des Deficits Sensoriels, CNRS URA 1968, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris cedex 15, France.
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