Clinical and Genetic Studies of Hearing Impairment

Monogenic disorders provide a probability for experiments of hereditary troubles in listening to impairment-a knowledge that could be required for progression of upcoming treatment methods. During this dissertation, the underlying hereditary troubles in neurofibromatosis 2 (NF2) and familial Meniere’s disease (FMD) were evaluated, and familial X-linked hearing impairment was explained from the medical viewpoint. In paper I, constitutional DNA from 116 individuals with NF2 of adaptable severity was examined using the array-CGH method centering on a 7.6-Mb area encompassing the NF2 gene on chromosome 22q. Deletions put together in 20.7% of examples. In mild NF2, the deletions were small, but variable capacities of deletions put together in situations that were moderately or severely impacted. Illness phenotype could not be predicted from the scale of the deletions. In papers II and III, an individual five-generation family with autosomal dominant FMD was described….

Contents: Clinical and Genetic Studies of Hearing Impairment

Introduction
Genetic hearing impairment
Neurofibromatosis 2
Meniere’s disease
X-linked hearing impairment
Genetic investigations
Genetic linkage
Genetic markers
Linkage analysis
Fluorescent in situ hybridisation (FISH)
Sequencing
Microarray -Comparative Genomic Hybridisation (array- CGH)
Present Investigations
Aims
Neurofibromatosis 2
Materials
Results
Discussion
Meniere’s disease
Materials
Results
Discussion
X-linked hearing impairment
Materials
Results…