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ORIGINAL ARTICLE A Novel SLC26A4 (PDS) Deafness Mutation

A Novel SLC26A4 (PDS) Deafness Mutation
Retained in the Endoplasmic Reticulum
Zippora N. Brownstein, PhD; Amiel A. Dror, BSc; Dror Gilony, MD; Lela Migirov, MD;
Koret Hirschberg, PhD; Karen B. Avraham, PhD
Objectives: To identify mutations in the SLC26A4 gene
in individuals with nonsyndromic hearing loss and en-
larged vestibular aqueduct, to design a predicted model
of the pendrin protein, and to characterize novel muta-
tions by means of localization in mammalian cells and
effect of the mutation on the predicted model.
Design: Validation of the mutation by its exclusion in
more than 300 individuals with normal hearing.
Setting: A laboratory of genetics of hearing loss re-
search, clinical genetics laboratories, an otolaryngology
department at Tel Aviv University, and medical centers
in Israel.
Patients: A patient with nonsyndromic hearing loss and
enlarged vestibular aqueduct, 203 deaf probands, and 310
controls with normal hearing.


Source: Avraham, Karen - Department of Human Genetics and Molecular Medicine, Tel Aviv University


Collections: Biology and Medicine