Autosomal dominant low-frequency hearing impairment (DFNA6/14): a clinical and genetic family study.
Otol Neurotol
; 23(6): 876-84, 2002 Nov.
Article
in En
| MEDLINE
| ID: mdl-12438850
ABSTRACT
OBJECTIVE:
To delineate the phenotype and genotype of an autosomal dominant low-frequency sensorineural nonsyndromic hearing impairment trait in relation to similar traits. STUDYDESIGN:
Family study, including retrospective case reviews.SETTING:
Tertiary referral center. PATIENTS Hearing impairment was documented in 11 family members in five generations, 8 of whom were alive and participated in this study. INTERVENTION Diagnostic. MAIN OUTCOMEMEASURES:
Clinical study medical and otologic history and examination, retrieval of previous audiograms, pure-tone audiometry, and statistical analysis of audiometric data. Genetic study linkage analysis of blood samples in 18 clinically affected and nonaffected family members.RESULTS:
Hearing impairment had been present since early childhood, mainly affecting the low frequencies (mean threshold 45 dB HL at 0.25-1 kHz); speech recognition was hardly affected during the first three decades of life. Higher frequencies became involved with increasing age, thus causing a flat-type audiogram at middle age and down-sloping audiograms after age 60 years. Progression was mild but significant at all frequencies (0.5 dB/year at 0.25 kHz to 1.3 dB/year at 8 kHz) and persisted after correction was applied for normal presbyacusis. The trait was linked to chromosome 4p16.3, in a region comprising both the previously located, closely adjacent DFNA6 and the DFNA14 loci for low-frequency hearing impairment.CONCLUSION:
A third family (designated Dutch II) was identified with a low-frequency hearing impairment trait showing linkage to chromosome 4p16.3 (DFNA6/14). The progression of hearing impairment beyond presbyacusis in the current study is unprecedented for DFNA6/14 traits.
Search on Google
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pitch Discrimination
/
Chromosome Aberrations
/
Genes, Dominant
/
Hearing Loss, Sensorineural
/
Membrane Proteins
Type of study:
Diagnostic_studies
/
Observational_studies
/
Prevalence_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Adolescent
/
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Otol Neurotol
Journal subject:
NEUROLOGIA
/
OTORRINOLARINGOLOGIA
Year:
2002
Document type:
Article
Affiliation country:
Netherlands
Country of publication:
EEUU
/
ESTADOS UNIDOS
/
ESTADOS UNIDOS DA AMERICA
/
EUA
/
UNITED STATES
/
UNITED STATES OF AMERICA
/
US
/
USA