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ORIGINAL ARTICLE Chromosomal Mapping and Phenotypic

Chromosomal Mapping and Phenotypic
Characterization of Hereditary Otosclerosis
Linked to the OTSC4 Locus
Zippora Brownstein, PhD; Abraham Goldfarb, MD; Haya Levi, MA; Moshe Frydman, MD; Karen B. Avraham, PhD
Objective: To perform chromosomal mapping and
clinical analysis of hereditary otosclerosis linked to the
fourth locus for otosclerosis (OTSC4) in an Israeli
Design: Pedigree study.
Setting: A genetics of hearing loss research laboratory,
a clinical genetics laboratory, a center for speech and hear-
ing, and an otolaryngology department at a university and
medical centers in Israel.
Subjects: An Israeli family of which 24 members were
ascertained and a pedigree was constructed; 12 mem-
bers had otosclerosis.
Interventions: Confirmation of otosclerosis by sur-
gery (3 subjects) and by audiologic evaluation, medical
history, and family history (9 subjects), and whole-


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


Collections: Biology and Medicine