June 1997

Inherited Nonsyndromic Hearing LossAn Audiovestibular Study in a Large Family With Autosomal Dominant Progressive Hearing Loss Related to DFNA2

Author Affiliations

From the Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen, the Netherlands (Drs Marres, van Ewijk, Huygen, Kunst, and Cremers); and the Department of Medical Genetics, University of Antwerp, Antwerp, Belgium (Drs van Camp, Coucke, and Willems).

Arch Otolaryngol Head Neck Surg. 1997;123(6):573-577. doi:10.1001/archotol.1997.01900060015002

Objective:  To study nonsyndromic progressive sensorineural hearing loss (SNHL) with significant linkage to the DFNA2 locus on chromosome 1p in a Dutch kindred.

Design:  A 6-generation family with 194 family members was studied. Of the presumably affected persons, 43 were examined in detail to obtain audiograms and 37 underwent vestibulo-ocular examination.

Results:  Regression analysis showed significant and equal linear progression in SNHL with age (by about 1 dB per year) at all frequencies. Offset values were close to zero at the low frequencies (0.25, 0.5, and 1 kHz) but increased systematically with the frequency. It is likely that they represent congenital high-frequency SNHL: about15 dB at 2 kHz, 30 dB at 4 kHz, and 50 dB at 8 kHz. Bilateral caloric weakness was not observed. A significant finding was that 25% to 35% (depending on the exclusion criteria) of the patients showed an increased vestibulo-ocular reflex (hyperreactivity) as measured by rotatory responses. Forty-one patients showed significant linkage to the 1p locus.

Conclusions:  Including the present family, 4 families have been reported to show linkage to chromosome 1p. Statistical analysis of the audiological data shows a progression of 1 dB per octave per year in this type of progressive SNHL.Arch Otolaryngol Head Neck Surg. 1997;123:573-577