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October 1993

A Role for the Otolaryngologist in Identification and Discovery of Genetic Disorders and Chromosomal Abnormalities

Author Affiliations

Bethesda, Md; Washington, DC

Arch Otolaryngol Head Neck Surg. 1993;119(10):1074-1081. doi:10.1001/archotol.1993.01880220018005

IN THE 40 years that have passed since the discovery of the structure of the DNA molecule, molecular biology has rapidly evolved from basic science research to having diagnostic and therapeutic clinical applications. Research is in progress to identify the genes for deafness and craniofacial anomalies as well as the development of novel therapeutic modalities, including gene therapy for head and neck cancer. Otolaryngologists have been active participants and have made significant contributions in the clinical as well as the basic science advances in molecular characterization of diseases.

A partial list of disorders of interest to the otolaryngologist for which genes have been identified include the following: Waardenburg syndrome, Alport syndrome, Hunter syndrome, Hurler syndrome, Huntington's disease, osteogenesis imperfecta, and neurofibromatosis types 1 and 2.1-11 Numerous other otolaryngologic disorders that have been localized to narrow chromosomal regions include the following: X-linked progressive mixed deafness with perilymphatic gusher, Usher syndrome,

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