Theme 2: Perception, Action and Control

Clinical Otogenetics

Our clinical otogenetics team studies patients and families with hereditary hearing impairment already for more than thirty years, long before the first deafness gene was cloned in 1995. Our aim is to characterize the phenotype of specific genetic types of hearing impairment in order to improve counseling of our patients. We measure the severity and progression of hearing impairment via pure tone audiograms, and speech perception tests. We evaluate a possible association with other clinical symptoms and we look for optimal ways of rehabilitation (f.e. cochlear implantation).

Our studies are not only essential to the identification of novel deafness genes (Molecular Otogenetics) but also to obtain thorough insight in the clinical presentation. Hereditary hearing impairment is genetically extremely heterogeneous, which hampers a fast genetic diagnosis. Proper clinical evaluation of inherited hearing impairment can guide genetic screening and therefore is cost-effective as well. Evaluations of the phenotype are being conducted by cross-sectional as well as longitudinal statistical analyses of pure tone and speech audiometry. From these analyses, audioprofiles are constructed which we call Age-Related Typical Audiograms (ARTA) that depict the progression of hearing impairment over decade steps. Psychophysical tests are applied in order to further distinguish different genetic types of hearing impairment from each other and to enhance our insight into the underlying inner ear defects.

Our main topics of research are:

Autosomal dominantly inherited hearing loss
Autosomal recessively inherited hearing loss
Otosclerosis
Turner syndrome
Usher syndrome
Congenital middle and external ear anomalies
Cochlear implantation in hereditary hearing loss

Contact
Name:	H.P.M. Kunst
Telephone:	024-3617203
Email:	Dirk.Kunst@radboudumc.nl
Visiting address:	Department of Ear, Nose, Throat / Route 377 Philips van Leydenlaan 15 6525 EX Nijmegen The Netherlands
Postal address:

Key grants and prizes

2000: Dutch Otorhinolaryngology thesis of the year price, second price
2004: Jean Marquet Award, quadrennial international award to promote clinical and scientific work on the field of otology; Brussels, Belgium

Publications

Feenstra I, Vissers LE, Pennings RJ, Nillessen W, Pfundt R, Kunst HP, Admiraal RJ, Veltman JA, van Ravenswaaij-Arts CM, Brunner HG, Cremers CW. Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans. Am J Hum Genet. 2011 Dec 9;89(6):813-9.

Weegerink NJ, Huygen PL, Schraders M, Kremer H, Pennings RJ, Kunst HP. Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family. Hear Res. 2011 Dec;282(1-2):167-77.

Weegerink NJ, Schraders M, Leijendeckers J, Slieker K, Huygen PL, Hoefsloot L, Oostrik J, Pennings RJ, Simon A, Snik A, Kremer H, Kunst HP. Audiometric characteristics of a Dutch family with Muckle-Wells syndrome. Hear Res. 2011 Dec;282(1-2):243-51.

Weegerink NJ, Schraders M, Oostrik J, Huygen PL, Strom TM, Granneman S, Pennings RJ, Venselaar H, Hoefsloot LH, Elting M, Cremers CW, Admiraal RJ, Kremer H, Kunst HP. Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. J Assoc Res Otolaryngol. 2011 Dec;12(6):753-66.

Thomeer HG, Kunst HP, Cremers CW. Congenital stapes ankylosis associated with another ossicular chain anomaly: surgical results in 30 ears. Arch Otolaryngol Head Neck Surg. 2011 Sep;137(9):935-41.

Thomeer HG, Admiraal RJ, Hoefsloot L, Kunst HP, Cremers CW. Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations. Otol Neurotol. 2011 Jun;32(4):632-8.

Schrauwen I, Weegerink NJ, Fransen E, Claes C, Pennings RJ, Cremers CW, Huygen PL, Kunst HP, Van Camp G. A new locus for otosclerosis, OTSC10, maps to chromosome 1q41-44. Clin Genet. 2011 May;79(5):495-7.

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Research Theme 2:
Perception, Action and Decision-making

Research Group
Sensory Disorders - Clinical Otogenetics

Principal Investigator

Dr. H.P.M. (Dirk) Kunst

Group members