caa a22 4500 47584923X CHVBK 20180406123923.0 cr unu---uuuuu 170329e20000201xx s 000 0 eng 10.1007/PL00007511 doi (NATIONALLICENCE)springer-10.1007/PL00007511 A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 region [Elektronische Daten] [R. J. H. Ensink, P. L. M. Huygen, P. Van Hauwe, P Coucke, C. W. R. J. Cremers, G. Van Camp] We studied a Dutch family with DFNA2-linked progressive sensorineural hearing impairment (SNHI). Recent audiograms were obtained from 18 of the affected persons (age 7-81 years) and were used in a gene-linkage analysis. Linear regression analysis of the audiograms, using binaural mean thresholds, disclosed on average a descending slope of approximately 10 dB/octave at any age and an annual threshold increase at any frequency of about 0.7 dB/year. There may have been substantial congenital impairment at higher frequencies, but longitudinal analysis of hearing impairment in the youngest case, who was followed from age 5 years, suggested that the most significant changes in hearing may have occurred in the first two decades of life. Linkage analysis was carried out with special attention to the DFNA2 region because hearing trends were very similar to families previously linked to DFNA2. Linkage to DFNA2 was established with maximum lod scores of 4.7 and 3.2 for the flanking markers of the DFNA2 region (D1S432;MYCL1). Springer-Verlag Berlin Heidelberg, 2000 Key words Genetic deafness nationallicence DFNA2 nationallicence Sensorineural autosomal dominant nationallicence Hearing impairment nationallicence Chromosome 1p34 nationallicence Ensink R. J. H. Department of Otorhinolaryngology and Head Neck Surgery, Secr. KNO 812, P.O. Box 9101, University Hospital, Nijmegen, The Netherlands e-mail: r.ensink@kno.azn.nl, Tel.: +31-24-3614450, Fax: +31-24-3540251, NL aut Huygen P. L. M. Department of Otorhinolaryngology and Head Neck Surgery, Secr. KNO 812, P.O. Box 9101, University Hospital, Nijmegen, The Netherlands e-mail: r.ensink@kno.azn.nl, Tel.: +31-24-3614450, Fax: +31-24-3540251, NL aut Van Hauwe P. Department of Medical Genetics, University of Antwerp, Belgium, BE aut Coucke P. Department of Medical Genetics, University of Antwerp, Belgium, BE aut Cremers C. W. R. J. Department of Otorhinolaryngology and Head Neck Surgery, Secr. KNO 812, P.O. Box 9101, University Hospital, Nijmegen, The Netherlands e-mail: r.ensink@kno.azn.nl, Tel.: +31-24-3614450, Fax: +31-24-3540251, NL aut Van Camp G. Department of Medical Genetics, University of Antwerp, Belgium, BE aut https://doi.org/10.1007/PL00007511 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00007511 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Ensink R. J. H. Department of Otorhinolaryngology and Head Neck Surgery, Secr. KNO 812, P.O. Box 9101, University Hospital, Nijmegen, The Netherlands e-mail: r.ensink@kno.azn.nl, Tel.: +31-24-3614450, Fax: +31-24-3540251, NL aut NATIONALLICENCE 700 1- Huygen P. L. M. Department of Otorhinolaryngology and Head Neck Surgery, Secr. KNO 812, P.O. Box 9101, University Hospital, Nijmegen, The Netherlands e-mail: r.ensink@kno.azn.nl, Tel.: +31-24-3614450, Fax: +31-24-3540251, NL aut NATIONALLICENCE 700 1- Van Hauwe P. Department of Medical Genetics, University of Antwerp, Belgium, BE aut NATIONALLICENCE 700 1- Coucke P. Department of Medical Genetics, University of Antwerp, Belgium, BE aut NATIONALLICENCE 700 1- Cremers C. W. R. J. Department of Otorhinolaryngology and Head Neck Surgery, Secr. KNO 812, P.O. Box 9101, University Hospital, Nijmegen, The Netherlands e-mail: r.ensink@kno.azn.nl, Tel.: +31-24-3614450, Fax: +31-24-3540251, NL aut NATIONALLICENCE 700 1- Van Camp G. Department of Medical Genetics, University of Antwerp, Belgium, BE aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer