학술논문
Novel syndrome of cataracts, retinitis pigmentosa, late onset deafness and sperm abnormalities: A new Usher syndrome subtype with X-linked inheritance?
Document Type
Academic Journal
Author
Source
American Journal Of Medical Genetics - A. Jul 15, 2007 143A(14):1646-1652
Subject
Language
English
ISSN
1552-4825
Abstract
Tissues of the auditory, ocular and reproductive systems have some similarities in their protein families and structures. Consequently, syndromes comprising these systems are described. Hearing loss alone is a component of more than 400 known syndromes and is a common nonsyndromic congenital disorder. Here we describe a syndrome in five brothers with the distinctive presentation of late-onset progressive hearing loss, cataracts, retinitis pigmentosa, sperm motility and shape problems in a family from the Kurdish population in Iran. The clinical findings of these patients are presented in detail and compared to the classical Usher syndromes. © 2007 Wiley-Liss, Inc.