Missense mutation in the USH2A gene: Association with recessive retinitis pigmentosa without hearing loss

American Journal of Human Genetics

Volumn 66, Issue 6, 2000, Pages 1975-1978

  Rivolta, Carlo ^a   Sweklo, Elizabeth A ^a   Berson, Eliot L ^a   Dryja, Thaddeus P ^a  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

AMINO ACID SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ANALYSIS; HEARING LOSS; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RNA TRANSLATION; USHER SYNDROME;

EID: 0033927821     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302926     Document Type: Article

References (12)

1. Boughman JA, Vernon M, Shaver KA (1983) Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis 36:595-603
2. Cruickshanks KJ, Wiley TL, Tweed TS, Klein BE, Klein R, Mares-Perlman JA, Nondahl DM (1998) Prevalence of hearing loss in older adults in Beaver Dam, Wisconsin: The Epidemiology of Hearing Loss Study. Am J Epidemiol 148: 879-886
3. Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D, et al (1998) Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 280:1753-1757
4. Hagstrom SA, North MA, Nishina PL, Berson EL, Dryja TP (1998) Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nat Genet 18:174-176
5. Jain PK, Lalwani AK, Li XC, Singleton TL, Smith TN, Chen A, Deshmukh D, et al (1998) A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. Genomics 50:290-292
6. Liu XZ, Hope C, Liang CY, Zou JM, Xu LR, Cole T, Mueller RF, et al (1999) A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. Am J Hum Genet 64:1221-1225
7. Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD (1997a) Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 16: 188-190
8. Liu XZ, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel KP, Brown SD (1997b) Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet 17:268-269
9. Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Moeller CG, et al (1994) Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet 50:32-38
10. Wagenaar M, van Aarem A, Huygen P, Pieke-Dahl S, Kimberling W, Cremers C (1999) Hearing impairment related to age in Usher syndrome types 1B and 2A. Arch Otolaryngol Head Neck Surg 125:441-445
11. Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, et al (1995) Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374:60-61
12. Weil D, Kussel P, Blanchard S, Levy G, Levi-Acobas F, Drira M, Ayadi H, et al (1997) The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 16:191-193