Journal Article

An α-Tectorin Gene Defect Causes a Newly Identified Autosomal Recessive Form of Sensorineural Pre-Lingual Non-Syndromic Deafness, DFNB21

Mirna Mustapha, Dominique Weil, Sébastien Chardenoux, Sanaa Elias, Elie El-Zir, Jacques S. Beckmann, Jacques Loiselet and Christine Petit

in Human Molecular Genetics

Volume 8, issue 3, pages 409-412
Published in print March 1999 | ISSN: 0964-6906
Published online March 1999 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/8.3.409
An α-Tectorin Gene Defect Causes a Newly Identified Autosomal Recessive Form of Sensorineural Pre-Lingual Non-Syndromic Deafness, DFNB21

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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 α-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 α-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 α-tectorin forming homo- or heteromeric structures.

Journal Article.  2174 words.  Illustrated.

Subjects: Genetics and Genomics

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