title: Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.
abstract: This article describes the hearing impairment (HI) phenotype which segregates in a large multi-generation Swiss-German family with autosomal dominant nonsyndromic HI. The locus segregating within this pedigree is located on chromosome 4q35-qter and is designated as DFNA24. For this pedigree, audiometric data on 25 hearing-impaired family members are available. It was demonstrated that within this kindred the HI is sensorineural, bilateral, prelingual in onset, and progressive throughout life. Age-related typical audiograms depict steeply down-sloping curves, with moderate high-frequency HI at birth, then steady progression to moderate HI in the low frequencies, severe HI at mid-frequencies and profound HI at high frequencies by age 70. Annual threshold deterioration was approximately 0.5 dB/year at 1-2 kHz after correction for presbycusis.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex. 77030, USA.
authors.forename: Regie Lyn P
authors.initials: RL
authors.lastname: Santos
authors.forename: Franziska M
authors.initials: FM
authors.lastname: Häfner
authors.forename: Patrick L M
authors.initials: PL
authors.lastname: Huygen
authors.forename: Thomas E
authors.initials: TE
authors.lastname: Linder
authors.forename: Albert A
authors.initials: AA
authors.lastname: Schinzel
authors.forename: Thomas
authors.initials: T
authors.lastname: Spillmann
authors.forename: Suzanne M
authors.initials: SM
authors.lastname: Leal
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001301:Audiometry, Pure-Tone; D001309:Auditory Threshold; D002648:Child; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D003430:Cross-Sectional Studies; D018450:Disease Progression; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D016014:Linear Models; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome