Hearing loss and connexin 26
| Autor: | Martijn H. Kemperman, Lies H. Hoefsloot, Cor W. R. J. Cremers |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
medicine.medical_specialty
Research groups Hearing loss Elucidation of hereditary disorders and their molecular diagnosis Hearing Loss Sensorineural DNA Mutational Analysis Connexin Locus (genetics) Genes Recessive Audiology Environmental - origin Connexins 03 medical and health sciences 0302 clinical medicine Genetic linkage otorhinolaryngologic diseases medicine Gehoor en communicatie Humans 030212 general & internal medicine Review Articles Genetics business.industry General Medicine 030227 psychiatry Connexin 26 Speech development Hearing and Communication Disorders Mutation Etiology medicine.symptom business Opheldering van erfelijke ziekten en hun moleculaire diagnostiek |
| Zdroj: | Journal of the Royal Society of Medicine, 95, 171-7 Journal of the Royal Society of Medicine, 95, 4, pp. 171-7 |
| ISSN: | 0141-0768 |
| Popis: | Hearing impairment is a sensory disability that affects millions of people all over the world. Though not life-threatening, it can become a major burden in social and professional life. In the industrialized world, deafness of infective and/or environmental origin has become less frequent, with a consequent rise in the proportion of hereditary hearing impairment. Deafness occurs in 1:1000 neonates1 and the cause is hereditary in about half. This type of hearing impairment is sometimes referred to as prelingual, as it affects the child before the age of speech development. A distinction can be made between syndromic deafness, in which the deafness is accompanied by other specific abnormalities, and non-syndromic deafness (about 75%), in which there are no additional abnormalities. Approximately three-quarters of the non-syndromic forms are caused by a recessive disorder1,2,3,4. Table 1 gives an overview of some epidemiological features. Table 1 Epidemiological features of prelingual hearing loss Between 1997 and today, many non-syndromic hereditary forms of deafness have been localized on the human genome by genetic linkage techniques. Depending on the pattern of inheritance of the deafness, these loci are designated DFNA (autosomal dominant), DFNB (autosomal recessive) or DFN (X-linked). They are numbered in chronological order of discovery. For the majority of these loci the underlying disease-causing genes have not been identified so far. On the Hereditary Hearing Loss Homepage5 all these currently known forms of hereditary deafness are summarized. Tables Tables22,,33,,44,,5, 5, derived from this homepage, illustrate the achievements in this field of research. Certain research groups, having found preliminary evidence of a new locus, have claimed (‘reserved’) loci in advance. ‘Withdrawn’ indicates those which turned out not to be correct. Most of these genetic types of hearing impairment are quite rare, with the exception of DFNB1. This paper addresses DFNB1, which is caused by mutations in the connexin 26 gene. Table 2 Loci and genes associated with autosomal dominant non-syndromic hearing impairment, with the year of publication Table 3 Loci and genes associated with autosomal recessive non-syndromic hearing impairment, with the year of publication Table 4 Loci and genes associated with X-linked non-syndromic hearing impairment, with the year of publication Table 5 Mitochondrial mutations associated with non-syndromic hearing impairment, with the year of publication |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|