Novel syndrome of cataracts, retinitis pigmentosa, late onset deafness and sperm abnormalities: A new Usher syndrome subtype with X-linked inheritance?

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 disorde...

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Veröffentlicht in:American journal of medical genetics. Part A 2007-07, Vol.143A (14), p.1646-1652
Hauptverfasser: Malekpour, Mahdi, Shahidi, Arash, Khorsandi Ashtiani, Mohammad Taghi, Motasaddi Zarandy, Masoud
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Sprache:eng
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Zusammenfassung: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.31716