Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 2 de 2
Filter
Add more filters










Database
Language
Publication year range
1.
Hum Mol Genet ; 10(3): 195-200, 2001 Feb 01.
Article in English | MEDLINE | ID: mdl-11159937

ABSTRACT

We identified Eyes absent 4 (EYA4), a member of the vertebrate Eya family of transcriptional activators, as the causative gene of postlingual, progressive, autosomal dominant hearing loss at the DFNA10 locus. In two unrelated families from Belgium and the USA segregating for deafness at this locus, we found different mutations in EYA4, both of which create premature stop codons. Although EYA proteins interact with members of the SIX and DACH protein families in a conserved network that regulates early embryonic development, this finding shows that EYA4 is also important post-developmentally for continued function of the mature organ of Corti.


Subject(s)
Deafness/genetics , Hearing Loss, Sensorineural/genetics , Trans-Activators/genetics , Age of Onset , Alternative Splicing , Animals , Base Sequence , Chromosome Mapping , Chromosomes, Human, Pair 6/genetics , Cochlea/embryology , Cochlea/metabolism , DNA/chemistry , DNA/genetics , DNA Mutational Analysis , Deafness/pathology , Ear, Inner/metabolism , Female , Hearing Loss, Sensorineural/pathology , Humans , In Situ Hybridization , Male , Mice , Mice, Inbred CBA , Mutation , Pedigree , Polymorphism, Single Nucleotide , Polymorphism, Single-Stranded Conformational , RNA, Messenger/genetics , RNA, Messenger/metabolism , Rats , Rats, Sprague-Dawley
2.
Hum Genet ; 107(1): 7-11, 2000 Jul.
Article in English | MEDLINE | ID: mdl-10982027

ABSTRACT

DFNA10 originally was mapped to the long arm of chromosome 6 in a large American family segregating for autosomal dominant progressive nonsyndromic hearing impairment. By extending this American family, we have reduced the original DFNA10 candidate region from 13 cM to 3.7 cM. We also report a Belgian family with autosomal dominant nonsyndromic hearing impairment linked to DFNA10 and a Norwegian family with the same condition in which linkage is suggestive, although maximum lod scores are only 2.5. The hearing phenotype in all three DFNA10 families is similar, with losses beginning in the middle frequencies and involving the low and high frequencies later in life.


Subject(s)
Deafness/genetics , Genetic Linkage , Audiometry , Chromosome Mapping , Chromosomes, Human, Pair 6 , Expressed Sequence Tags , Family Health , Female , Genetic Markers , Haplotypes , Humans , Lod Score , Male , Pedigree , Phenotype
SELECTION OF CITATIONS
SEARCH DETAIL
...