European Journal of Human Genetics



A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment

Nanna D Rendtorff, Mei Zhu, Toril Fagerheim, Torben L Antal, MaryPat Jones, Tanya M Teslovich, Elizabeth M Gillanders, Michael Barmada, Erik Teig, Jeffrey M Trent, Karen H Friderici, Dietrich A Stephan and Lisbeth Tranebjærg


Figure 1.

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(a) Pedigree of the Norwegian DFNA20/26 family with autosomal-dominant progressive hearing impairment and segregation of the ACTG1 c.1109T>C missense mutation. Family members tested positive for the missense mutation are indicated by +/-, and family members tested negative for the mutation are indicated by -/-. (b) italic gamma-Actin mutation analysis. Sequencing result showing the c.1109T>C mutation in ACTG1 exon 6. The mutation is heterozygous in affected individuals. (c) Audiograms of left and right ear of representative, affected family members (patients VI-8 and V-16). The age at the time of analysis is indicated. The observation period was 31 and 41 years in patients VI-8 and V-16, respectively.