An analysis of a large postlingually deaf family with hereditary non- syndromic profound hearing loss

Simón I. Angeli, Carlos Naranjo, Rick A. Friedman, Alfredo Naranjo, Oswaldo Henríquez, Nathan Fischel-Ghodsian, Edgar Chiossone

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)158-162
Number of pages5
JournalActa Oto-Laryngologica
Volume119
Issue number2
DOIs
StatePublished - Mar 1999

Keywords

  • Audiology
  • Deafness
  • Hereditary diseases
  • Mitochondrial

ASJC Scopus subject areas

  • Otorhinolaryngology

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