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 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.
Malekpour
Mahdi
M
ENT Research Center, Department of Otolaryngology, Head and Neck Surgery, Amir Alam Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Shahidi
Arash
A
Khorsandi Ashtiani
Mohammad Taghi
MT
Motasaddi Zarandy
Masoud
M
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002386:Cataract / Q000473:pathology*; D003638:Deafness / Q000473:pathology*; D003937:Diagnosis, Differential; D005192:Family Health; D005260:Female; D050172:Genes, X-Linked; D006801:Humans; D008297:Male; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000473:pathology*; D013094:Spermatozoa / Q000002:abnormalities*; D013577:Syndrome; D052245:Usher Syndromes / Q000235:genetics / Q000473:pathology