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

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Abstract
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: about 15 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