Angeli S I, Naranjo C, Friedman R A, Naranjo A, Henríquez O, Fischel-Ghodsian N, Chiossone E
Department of Otorhinolaryngology, Hospital San Juan de Dios, Fundación Venezolana de Otología, Caracas, Venezuela.
Acta Otolaryngol. 1999 Mar;119(2):158-62. doi: 10.1080/00016489950181576.
We initiated a clinical and genetic linkage study on members of a large Venezuelan family with hereditary hearing loss. A medical history and a physical examination were performed on 30 family members. Audiometry was carried out in 25 subjects, and in 2 additional children auditory brainstem responses were obtained. Additional testing (site-of-lesion, electronystagmography and computed tomography) was also obtained in a few subjects. DNA was extracted from blood samples from 25 family members. The type of deafness in this family is neurosensorial, non-syndromic and postlingual. The average age of onset of deafness is 7 years and there is a rapid progression leading to profound deafness. Deafness is possibly of cochlear origin and there is no associated vestibular pathology. Analysis of the pedigree discloses a maternal pattern of inheritance with a significant female predominance, compatible with a mutation of the mitochondrial DNA. The molecular DNA analysis for the known mitochondrial mutations are discussed.
