Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery)

Int J Pediatr Otorhinolaryngol. 1983 Nov;6(2):179-85. doi: 10.1016/s0165-5876(83)80118-9.

Abstract

A new pedigree with 9 obligate and 10 probable female carriers of the X-linked mixed deafness syndrome is presented. In the male the syndrome is characterized by a perilymphatic gusher during stapes surgery, a severe progressive mixed hearing loss and lack or strong reduction of vestibular responses. Four of the 9 obligate heterozygote females show similar but much milder audiological abnormalities. The other five obligate female carriers have a normal audiogram. None of the obligate female carriers showed vestibular abnormalities such as observed in the affected males. Ten females, sisters of affected males, have a chance of 50% to be heterozygote carriers. Five of these females have also a hearing loss, the other 5 have normal audiograms. The relevance of these findings for genetic counseling and for identification of affected males is discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Deafness / genetics*
  • Deafness / surgery
  • Female
  • Heterozygote*
  • Humans
  • Labyrinthine Fluids*
  • Pedigree
  • Perilymph*
  • Postoperative Complications / prevention & control
  • Stapes Surgery*
  • Syndrome
  • X Chromosome*