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

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 member...

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Published inHuman molecular genetics Vol. 8; no. 3; pp. 409 - 412
Main Authors Mustapha, Mirna, Weil, Dominique, Chardenoux, Sébastien, Elias, Sanaa, El-Zir, Elie, Beckmann, Jacques S., Loiselet, Jacques, Petit, Christine
Format Journal Article
LanguageEnglish
Published Oxford Oxford University Press 01.03.1999
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Abstract 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.
AbstractList 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.
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.
Author Loiselet, Jacques
Petit, Christine
Elias, Sanaa
Weil, Dominique
El-Zir, Elie
Beckmann, Jacques S.
Chardenoux, Sébastien
Mustapha, Mirna
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  givenname: Sébastien
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Issue 3
Keywords Genetic mapping
Human
Membrane protein
Gene
Family study
Auditory disorder
ENT disease
Mutation
Chromosome C11
Tectorial membrane
Hearing loss
Language English
License CC BY 4.0
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Snippet 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...
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SubjectTerms Base Sequence
Biological and medical sciences
Chromosome Mapping
Chromosomes, Human, Pair 11 - genetics
Deafness - genetics
Deafness - physiopathology
DNA Mutational Analysis
DNA Primers - genetics
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Extracellular Matrix Proteins - genetics
Female
Genes, Dominant
Genes, Recessive
Genetic Linkage
GPI-Linked Proteins
Heterozygote
Humans
Lebanon
Male
Medical sciences
Membrane Glycoproteins - genetics
Non tumoral diseases
Otorhinolaryngology. Stomatology
Pedigree
Phenotype
Point Mutation
Title An α-Tectorin Gene Defect Causes a Newly Identified Autosomal Recessive Form of Sensorineural Pre-Lingual Non-Syndromic Deafness, DFNB21
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