Clinical Analysis Of Disorders Of Hearing And Balance

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1. In collaboration with Dr. Drayna of the NIDCD, our audiology unit used a battery of audiologic tests to detect auditory physiologic abnormalities associated with tune deafness. They identified at least one test in which performance is strongly correlated with tune deafness. 2. In collaboration with Drs. Al Braun, Barry Horwitz, and others, the audiology unit is involved in the design, implementation, and data analysis of safety studies on the auditory system (and hearing) after exposure to either multiple MRI scans, or MRI scans performed in new scanners. 3. In collaboration with the Molecular Biology and Genetics section, the Audiology Unit performs auditory phenotypic assessments of individuals with hearing loss and enlarged vestibular aqueducts (EVA), as well as their siblings and parents. Over 90 probands and their families have now been ascertained. The audiology unit is currently evaluating details of the auditory phenotype to search for features that predict genotype, clinical prognosis, or clinical diagnosis. 4. In collaboration with investigators from other NIH institutes, we continue to evaluate hearing and balance manifestations in Fanconi anemia and other inherited bone marrow failure syndromes (Dr. Alter), neonatal onset multi-system inflammatory disorder, familial cold urticaria, and Muckle-Wells syndrome (Dr. Goldbach-Mansky, NIAMS), Pallister-Hall syndrome (Dr. Biesecker, NHGRI), Smith-Magenis syndrome (Ms. Smith, NHGRI), Usher syndrome (Dr. Tsilou, NEI), xeroderma pigmentosum (Dr. Kraemer, NCI), progeria (Dr. Gahl, NHGRI), McCune-Albright syndrome and Polyostotic Fibrous Dysplasia (Dr. Collins, NIDCR), anthrax (Dr. Wright, NIAID), and von Hippel-Lindau disease. 5. In collaboration with Dr. Leopold (NIMH), the audiology unit is involved in the design, implementation, an analysis of safety studies on the auditory system in macaque monkeys exposed to functional MRI noise. 6. In collaboration with the Molecular Biology and Genetics section, the Audiology Unit ascertained a large North American family segregating progressive, nonsyndromic sensorineural hearing loss in a matrilineal/maternal/mitochondrial pattern of inheritance. The hearing loss phenotype is remarkable for its high degree of penetrance, early onset and rapid progression, and numerous anecdotal reports of sudden drops of hearing associated with head trauma. 7. In collaboration with Dr. Friedman of the NIDCD, we assisted in the ascertainment of large families segregating hereditary hearing loss. These families were used to map novel loci for autosomal dominant DFNA27 hearing loss and autosomal recessive DFNB72 deafness.