Journal
HUMAN MOLECULAR GENETICS
Volume 11, Issue 23, Pages 2877-2885Publisher
OXFORD UNIV PRESS
DOI: 10.1093/hmg/11.23.2877
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Funding
- NIDCD NIH HHS [1 ZO1 DC000039-05, 1-Z01 DC 00060-01] Funding Source: Medline
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We ascertained a large American family with an autosomal dominant form of progressive non-syndromic sensorineural hearing loss. After excluding linkage to known deafness loci, we performed a genome-wide scan and found linkage to marker GAAT1A4 on chromosome 8q22 (LOD = 5.12 at theta = 0), and this locus was designated DFNA28. Sequencing of six candidate genes in the 1.4cM linked region identified a frameshift mutation (1609-1610insC) resulting in a premature translation stop codon in exon 14 of the gene TFCP2L3 (transcription factor cellular promoter 2-like 3). TFCP2L3 is a member of a family of transcription factor genes whose archetype is TFCP2, a mammalian homolog of the Drosophila gene grainyhead. Northern blot analyses and in situ hybridization studies show that mouse Tfcp2l3 is expressed in many epithelial tissues, including cells lining the cochlear duct, at embryonic day 18.5 and postnatal day 5.
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