Journal Article

Mutation of a transcription factor, <i>TFCP2L3</i>, causes progressive autosomal dominant hearing loss, DFNA28

Linda M. Peters, David W. Anderson, Andrew J. Griffith, Kenneth M. Grundfast, Theresa B. San Agustin, Anne C. Madeo, Thomas B. Friedman and Robert J. Morell

in Human Molecular Genetics

Volume 11, issue 23, pages 2877-2885
Published in print November 2002 | ISSN: 0964-6906
Published online November 2002 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/11.23.2877
Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28

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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 𝛉=0), and this locus was designated DFNA28. Sequencing of six candidate genes in the 1.4 cM 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.

Journal Article.  5612 words.  Illustrated.

Subjects: Genetics and Genomics

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