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• W1551297465 abstract "Hearing impairment is one of the most prevalent disorders. About 10% of the population aged 55-60 years suffers from significant hearing impairment, this increases to about 50% at the age of 80 years. In this thesis the phenotype of 5 families is described extensively, each family showed about 20-40 affected members. In Chapter 2 several unrelated DFNA2 families with high-frequency hearing impairment are described. All families showed progression that could not be explained by ageing alone. A possible congenital hearing impairment was suggested. Chapter 3 describes 2 families with mid-frequency hearing impairment. In the DFNA13 family a typical audiogram shape was found, it showed a combination of mid- and high-frequency sensorineural hearing impairment.The influence of presbyacusis resulted in a downsloping audiogram at an older age. DFNA21 is a new locus responsible for a variable phenotype, some individuals show a mid-frequency hearing impairment. Progression could not be attributed to ageing alone. DFNA14 is the second new locus described in this thesis. This locus is responsible for a low-frequency hearing impairment. Progression of the impairment ,explained by ageing, resulted in a down-sloping audiogram. Besides the two newly identified loci DFNA14 and DFNA21, the mutations in DFNA2 (KCNQ4 gene) and DFNA13 (COL11A2 gene) were also not found previously in other families. The results from these studies can be used for presymptomatic diagnosis, prognosis and counseling. Besides this we hope to gain more insight in the functioning of the ear by tracing gene defects and their corresponding molecular structures." @default.
• W1551297465 created "2016-06-24" @default.
• W1551297465 creator A5091018521 @default.
• W1551297465 date "1999-01-01" @default.
• W1551297465 modified "2023-09-27" @default.
• W1551297465 title "Autosomal dominant inherited non-syndromic sensorineural hearing impairment : phenotype and genotype correlations of DFNA2-DFNA13-DFNA14-DFNA21" @default.
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