Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor

Moshe Frydman*, Sarah Vreugde, Ben I. Nageris, Sigal Weiss, Oz Vahava, Karen B. Avraham

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Objectives: To describe the detailed auditory phenotype of DFNA15, genetic hearing loss associated with a mutation in the POU4F3 transcription factor, and to define genotype-phenotype correlations, namely, how specific mutations lead to particular clinical consequences Design: An analysis of clinical features of hearing-impaired members of an Israeli family, family H, with autosomal dominant-inherited hearing loss. Setting: Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Audiology, Rabin Medical Center, Petah Tiqwa, Israel; and audiological centers. Participants: Clinical features of 11 affected and 5 unaffected individuals older than 40 years from family H were studied. Mutation analysis was performed in 6 presymptomatic individuals younger than 30 years; clinical features were analyzed in 4 of these family H members. Interventions: Hearing was measured by pure-tone audiometry and speech audiometry on all participating relatives of family H. Immittance testing (tympanometry and acoustic reflexes), auditory brainstem response, and otoacoustic emissions were done in a selected patient population. Results: The patients presented with progressive high-tone sensorineural hearing impairment, which became apparent between ages 18 and 30 years. The hearing impairment became more severe with time, eventually causing significant hearing loss across the spectrum at all frequencies. Conclusions: Our results indicate that POU4F3 mutation-associated deafness cannot be identified through clinical evaluation, but only through molecular analysis. Intrafamilial variability suggests that other genetic or environmental factors may modify the age at onset and rate of progression.

Original languageEnglish
Pages (from-to)633-637
Number of pages5
JournalArchives of Otolaryngology - Head and Neck Surgery
Issue number5
StatePublished - May 2000


FundersFunder number
Fogarty International CenterR03TW001108


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