Gene: [14q32/USH1A] Usher syndrome 1A (autosomal recessive, severe; retinitis/deafness); [USH1 US1 ]


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."

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)."

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

KEY

eye, neu

CLA

unknown, basic

LOC

14 q32

MIM

MIM: 276900

SYN

USH1 US1

鸯铗痂蝈 蜞赕:

  • Gene: [14q32/EMAP] echinoderm microtubule-associated protein-like protein; [EMAPL ]