A Novel Autosomal Recessive Non-Syndromic Deafness Locus, DFNB66, Maps to Chromosome 6p21.2-22.3 in a Large Tunisian Consanguineous Family

Hereditary non-syndromic deafness is extremely heterogeneous. Autosomal recessive forms account for approximately 80% of genetic cases. Autosomal recessive non-syndromic sensorineural deafness segregating in a large consanguineous Tunisian family was mapped to chromosome 6p21.2-22.3. A maximum lod s...

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Bibliographic Details
Published in:Human heredity 2005-01, Vol.60 (3), p.123-128
Main Authors: Tlili, Abdelaziz, Männikkö, Minna, Charfedine, Ilhem, Lahmar, Imed, Benzina, Zeineb, Amor, Mohamed Ben, Driss, Nabil, Ala-Kokko, Leena, Drira, Mohamed, Masmoudi, Saber, Ayadi, Hammadi
Format: Article
Language:English
Subjects:
Chromosome Mapping
Chromosomes
Chromosomes, Human, Pair 6 - genetics
Deafness
Deafness - genetics
DNA Mutational Analysis
DNA Primers
Expressed Sequence Tags
Families & family life
Genes, Recessive - genetics
Humans
Lod Score
Microsatellite Repeats - genetics
Original Paper
Pedigree
Sequence Analysis, DNA
Tunisia
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Summary:Hereditary non-syndromic deafness is extremely heterogeneous. Autosomal recessive forms account for approximately 80% of genetic cases. Autosomal recessive non-syndromic sensorineural deafness segregating in a large consanguineous Tunisian family was mapped to chromosome 6p21.2-22.3. A maximum lod score of 5.36 at θ = 0 was obtained for the polymorphic microsatellite marker IR2/IR4. Haplotype analysis defined a 16.5-Mb critical region between microsatellite markers D6S1602 and D6S1665. The screening of 3 candidate genes, COL11A2, BAK1 and TMHS, did not reveal any disease causing mutation, suggesting that this is a novel deafness locus, which has been named DFNB66. A search in the Human Cochlear EST Library for ESTs located in this critical interval allowed us to identify several candidates. Further investigations on these candidates are needed in order to identify the deafness-causing gene in this Tunisian family.
ISSN:0001-5652
1423-0062
DOI:10.1159/000088974