Gene: [14q32/USH1A] Usher syndrome 1A (autosomal recessive, severe; retinitis/deafness); [USH1 US1 ]
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PAT |
The Usher syndromes are a group of autosomal recessive disorders characterized by progressive pigmentary retinopathy and sensorineural hearing loss. Phenotypic distinctions are based on auditory and vestibular differences. Persons with Usher syndrome type I (USH1) have congenital severe-to-profound hearing loss and vestibular dysfunction." |
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CAG |
There are eight clinical forms of this syndrome:
(1) six autosomal recessive types, severe (USH1A, USH1B (GEM:11q135/MYO7A), GEM:11p151/USH1C, GEM:10q/USH1D, GEM:21q21/USH1E, and GEM:10^/USH1F), (2) two autosomal recessive types, mild (GEM:01q41/USH2A and GEM:00.0/USH2B), and (3) third form (GEM:03q2/USH3)." |
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REF |
LIN,HIS "Daiger &: CCG, 46, (HGM9), 602, 1987 PAT,PHE,COM "Davenport &: Pediatrics, 62, 578-583, 1978 PAT,PHE,COM "Gorlin &: Arch Otolaryngol, 105, 353-354, 1979 LIN,LOC "Kaplan J &: Genomics, 14, 979-987, 1992 LIN,HIS "Pelias MZ &: CCG, 47, 111-112, 1988 LIN,HIS "Smith RJ &: CCG, 50, 102-106, 1989a LIN,HIS "Smith RJ &: CCG, 51, (HGM10), 1082, 1989b LIN,HIS "Smith RJ &: AJHG, 43, A159, 1988 |
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KEY |
eye, neu |
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CLA |
unknown, basic |
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LOC |
14 q32 |
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MIM |
MIM: 276900 |
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SYN |
USH1 US1 |
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