| | |
Summary: Clinical Characterization of Genetic Hearing Loss
Caused by a Mutation in the POU4F3
Transcription Factor
Moshe Frydman, MD; Sarah Vreugde, MD; Ben I. Nageris, MD; Sigal Weiss, MSc;
Oz Vahava, MSc; Karen B. Avraham, PhD
Objectives: To describe the detailed auditory pheno-
type of DFNA15, genetic hearing loss associated with a
mutation in the POU4F3 transcription factor, and to de-
fine genotype-phenotype correlations, namely, how spe-
cific mutations lead to particular clinical consequences.
Design: An analysis of clinical features of hearing-
impaired members of an Israeli family, family H, with au-
tosomal dominantinherited hearing loss.
Setting: Department of Human Genetics and Molecular
Medicine, Sackler School of Medicine, Tel Aviv Univer-
sity, Tel Aviv, Israel; Department of Audiology, Rabin
Medical Center, Petah Tiqwa, Israel; and audiological
centers.
Participants: Clinical features of 11 affected and 5 un-
affected individuals older than 40 years from family H
|
