Genetics and molecular biology of deafness. Update.

This article discusses the latest research in the molecular biology and genetics of hearing impairment and its importance to otolaryngologists. Recent research has led to the discovery of many of the genes and gene products that are responsible for hereditary hearing impairment. State mandated screening of newborn infants for hearing loss ensures that a large number of hearing-impaired children will be detected at a very early age. Additionally, these children often will be referred to the otolaryngologist for evaluation of the hearing impairment. It is the otolaryngologist who must gather a detailed family history and perform a thorough physical examination to fully assess the cause of the hearing impairment. In taking the family history, it is important to note that the diagnosis of a hereditary hearing impairment often involves the evaluation of a large-sized family that has a history of hearing disorders. A history of an affected individual in a small family does not necessarily support a diagnosis of hearing impairment in later affected offspring because of the small sample size. Often, a hearing impairment that is part of a syndrome may not be detected because the physical findings associated with a syndrome are subtle in a young infant. For example, the white forelock seen in patients with Waardenburg's syndrome type I cannot be visualized in the infant who lacks hair. Additionally, some patients with syndromic hearing impairment do not present with physical findings, but rather they exhibit abnormal laboratory studies. Additional points to remember include the following: As infectious iatrogenic causes of hearing impairment decrease, the relative incidence of hereditary hearing impairment will increase. Hereditary hearing impairment can present as an isolated finding, or in association with a number of anomalies recognizable as a syndrome. The study of genetics and molecular biology has led to the identification of genes associated with hearing impairment and will allow for future screening and possible therapy for the hearing-impaired. The screening of newborns for hearing impairment using the techniques of molecular biologists and geneticists will result in early identification and appropriate intervention for those at risk for hereditary hearing impairment. An understanding of the syndromic and nonsyndromic causes of hereditary hearing impairment can help the otolaryngologist make a diagnosis and provide appropriate audiologic and educational management to the patient.