A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration

Audiol Neurootol. 1997 May-Jun;2(3):139-54. doi: 10.1159/000259237.

Abstract

Cochleosaccular dysplasia or degeneration (Scheibe degeneration) is considered the most common cause of profound congenital hearing impairment, and accounts for approximately 70% of cases 2 with hereditary deafness. A five-generation family with hereditary hearing impairment associated with cochleosaccular degeneration has recently been identified. The diagnosis of classical Scheibe degeneration was based on histopathological findings in the temporal bones of the proband, a 61-year-old profoundly deaf male. Auditory structures in the brainstem of the proband were also studied. Twenty-two members of the family were contacted for surveys and blood samples. Of these, 6 males and 2 females have hearing impairment. Complete audiological evaluation was done on 12 family members, and prior audiologic records of the proband and affected family members were available for study. Affected family members suffer a mild bilateral high-frequency hearing loss during childhood and adolescence, and progress to moderate-to-profound deafness in the second and third decades of life. The family is suitable for linkage analysis and does not map to previously reported loci harboring autosomal dominant, nonsyndromic hereditary hearing impairment genes. The genetic study of this family will be helpful in identifying the genes which, when mutated, result in Scheibe degeneration.

Publication types

  • Case Reports

MeSH terms

  • Acoustic Impedance Tests
  • Adolescent
  • Audiometry, Pure-Tone
  • Child
  • Child, Preschool
  • Cochlea / pathology*
  • Cochlear Nerve / pathology*
  • Female
  • Genetic Linkage
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / pathology*
  • Humans
  • Male
  • Middle Aged
  • Nerve Degeneration / genetics*
  • Nerve Degeneration / pathology*
  • Pedigree
  • Reflex, Acoustic / physiology
  • Saccule and Utricle / pathology*
  • Speech Reception Threshold Test
  • Temporal Bone / pathology