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Human Molecular Genetics, 2002, Vol. 11, No. 23 2877-2885
© 2002 Oxford University Press

Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28

Linda M. Peters1, David W. Anderson1,{dagger}, Andrew J. Griffith2,3, Kenneth M. Grundfast4, Theresa B. San Agustin1,{dagger}, Anne C. Madeo1,2, Thomas B. Friedman1 and Robert J. Morell1,*

1Section on Human Genetics, 2Section on Gene Structure and Function and 3Section on Hearing, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA and 4Department of Otolaryngology, Boston Medical Center, Boston, MA 02118, USA.

Received July 1, 2002; Revised August 14, 2002; Accepted August 26, 2002

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 1.4 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.

* To whom correspondence should be addressed at: 5 Research Court, Room 2A19, Rockville, MD 20850, USA. Tel: +1 3014024249; Fax: +1 3014027580; Email: morellr{at}helix.nih.gov

{dagger} Present addresses: D.W. Anderson, CuraGen Corporation, Internal Discovery, Branford, CT 06405, USA. T.B. San Agustin, NIDRR, US Department of Education, Washington DC, DC 20202, USA.


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