Institute for Human Genetics

    Congenital hearing loss

    Congenital sensorineural hearing loss is among the most common birth defects, occurring in 1-2 out of 1,000 live births. In addition, hearing impairment may arise throughout all childhood and adulthood. Congenital hearing loss often leads to impaired development of speech and language, as well as poor performance in school and loss of cognitive potential. It may also impair the individual’s social and emotional relationships. Among known causes, genetic and environmental factors play integral roles. Current research suggests that genetic defects account for at least 50-60% of cases of congenital and childhood-onset hearing loss. Although remarkable progress has been made in identifying genetic causes and pathogenesis of hearing loss, a genetic etiology remains unknown in a vast number of patients. We use positional cloning, microarray and next generation sequencing approaches to identify the underlying gene defects in those patients.


    Vona B, Lechno S, Hofrichter MAH, Hopf S, Läßig AK, Haaf T, Keilmann A, Zechner U, Bartsch O. Confirmation of PDZD7 as a nonsyndromic hearing loss gene. Ear Hear. 37(4), e238-246 (2016). doi: 10.1097/AUD.0000000000000278

    Hofrichter MAH, Nanda I, Gräf J, Schröder J, Shehata-Dieler W, Vona B, Haaf T. A novel de novo mutation in CEACAM16 associated with postlingual hearing impairment. Mol Syndromol. 6(4), 156-163 (2015). doi:10.1159/000439576

    Vona B, Hofrichter MAH, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T. DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics. Clin Genet. 87(1), 49-55 (2015). doi:10.1111/cge.12332

    Vona B, Müller T, Nanda I, Neuner C, Hofrichter MAH, Schröder J, Bartsch O, Läßig A, Keilmann A, Schraven S, Kraus F, Shehata-Dieler W, Haaf T. Targeted deafness gene next generation sequencing of hearing impaired individuals uncovers informative mutations. Genet Med. 16, 945-953 (2014). doi: 10.1038/gim.2014.65

    Vona B, Nanda I, Neuner C, Schröder J, Kalscheuer VM, Shehata-Dieler W, Haaf T. Terminal chromosome 4q deletion syndrome: a case report and mapping of critical intervals for associated phenotypes. BMC Med Genet. 15, 72 (2014). doi: 10.1186/1471-2350-15-72

    Vona B, Neuner C, El Hajj N, Schneider E, Farcas R, Beyer V, Zechner U, Keilmann A, Poot M, Bartsch O, Nanda I, Haaf T. Disruption of the ATE1 and SLC12A1 genes by balanced translocation in a boy with non-syndromic hearing loss. Mol Syndromol. 5(1), 3-10 (2014). doi: 10.1159/000355443

    Rost S, Bach E, Neuner C, Nanda I, Dysek S, Bittner RE, Keller A, Bartsch O, Mlynski R, Haaf T, Müller CR, Kunstmann E. A novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6. Eur J Hum Genet. 22(2), 208-215 (2014). doi: 10.1038/ejhg.2013.108

    Vona B, Nanda I, Neuner C, Müller T, Haaf T. Confirmation of GRHL2 as the gene for the DFNA28 locus. Am J Med Genet Part A. 161A(8), 2060-2065 (2013). doi: 10.1002/ajmg.a.36017

    Bartsch O, Vatter A, Zechner U, Kohlschmidt N, Wetzig C, Baumgart A, Nospes S, Haaf T, Keilmann A. GJB2 mutations and genotype-phenotype correlation in 335 patients from Germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods. Audiol Neurotol. 15, 375-382 (2010). doi: 10.1159/000297216

    Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, Da Silva-Costa SM, Del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato EL, Schneider E, Van Camp G, Wuyts W, Smith RJ, Friderici KH. A novel DFNB1 deletion allele supports the existence of a distinct cis-regulatory region that controls GJB2 and GJB6 expression. Clin Genet. 78(3), 267-274 (2010). doi: 10.1111/j.1399-0004.2010.01387.x

    Schneider E, Märker T, Daser A, Frey-Mahn G, Beyer V, Farcas R, Schneider-Rätzke B, Kohlschmidt N, Grossmann B, Bauss K, Napiontek U, Keilmann A, Bartsch O, Zechner U, Wolfrum U, Haaf T. Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment. Hum Mol Genet. 18(4), 655-666 (2009). doi: 10.1093/hmg/ddn395


    Vona B, Nanda I, Hofrichter MAH, Shehata-Dieler W, Haaf T. Non-syndromic hearing loss gene identification: a brief history and glimpse into the future. Mol Cell Probes. 29(5), 260-270 (2015). doi:10.1016/j.mcp.2015.03.008


    Vona B, Hofrichter MAH, Chioza BA, Crosby AH, Nanda I, Haaf T. Genetic elucidation of nonsyndromic hearing loss in the high-throughput sequencing era. Monogr Hum Genet.  Volume 20, pp.56-72 (2016). doi:10.1159/000444599.


    Vona B and Haaf T. Genetics of Deafness, Karger Publishers AG, Basel. Series: Monogr Hum Genet. Volume 20 (2016), ISBN: 978-3-318-05855-0.