Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss

Tomoko Makishima, Kiyoto Kurima, Carmen C. Brewer, Andrew J. Griffith

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Objective: To characterize the auditory and vestibular phenotype of autosomal dominant nonsyndromic DFNA36 hearing loss. Study Design: Clinical evaluation of individuals with DFNA36 hearing loss linked to the D572N mutation of transmembrane channel-like gene 1 (TMC1). Medical history interviews, physical examinations, and pure-tone air conduction audiometry were performed in the field. Audiology and radiology reports were available and retrospectively reviewed for a subset of subjects. Setting: Primary, secondary, and tertiary referral centers (retrospectively reviewed studies); subjects' homes (prospective clinical evaluations). Patients: Thirteen affected members of a North American Caucasian family segregating DFNA36 hearing loss. Main Outcome Measures: Pure-tone audiometric thresholds and their rates of progression. Results: Subjects had bilateral, symmetric, sensorineural hearing loss with a postlingual onset in the first decade of life. High frequencies were initially affected, followed by rapid progression (5.9 dB/yr for the 0.5/1/2/4-kHz pure-tone average) to profound deafness across all frequencies by the second decade of life. Two individuals had excellent auditory-verbal communication after rehabilitation with cochlear implants placed over two decades after total deafening. Conclusions: DFNA36 has one of the earliest onsets and most rapid rates of progression among the autosomal dominant nonsyndromic hearing loss phenotypes. These distinctive features should facilitate its clinical detection and the development of clinical-molecular genetic diagnostic algorithms for dominant nonsyndromic hearing loss.

Original languageEnglish (US)
Pages (from-to)714-719
Number of pages6
JournalOtology and Neurotology
Volume25
Issue number5
DOIs
StatePublished - Sep 2004
Externally publishedYes

Fingerprint

Hearing Loss
Secondary Care Centers
Audiology
Phenotype
Audiometry
Cochlear Implants
Molecular Pathology
Sensorineural Hearing Loss
Deafness
Radiology
Tertiary Care Centers
Physical Examination
Molecular Biology
Rehabilitation
Communication
Air
Outcome Assessment (Health Care)
Interviews
Mutation
Nonsyndromic Deafness

Keywords

  • Deafness
  • DFNA36
  • Dominant
  • Genetic
  • Hearing
  • Progressive hearing loss
  • TMC1

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Neuroscience(all)

Cite this

Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss. / Makishima, Tomoko; Kurima, Kiyoto; Brewer, Carmen C.; Griffith, Andrew J.

In: Otology and Neurotology, Vol. 25, No. 5, 09.2004, p. 714-719.

Research output: Contribution to journalArticle

Makishima, Tomoko ; Kurima, Kiyoto ; Brewer, Carmen C. ; Griffith, Andrew J. / Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss. In: Otology and Neurotology. 2004 ; Vol. 25, No. 5. pp. 714-719.
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