A mutation (2314delG) in the usher syndrome type IIA gene: High prevalence and phenotypic variation [4]

American Journal of Human Genetics

Volumn 64, Issue 4, 1999, Pages 1221-1225

  Liu, X Z ^a   Hope, C ^a   Chuan Yu Liang, ^a   Jiu Mu Zou, ^a   Li Rong Xu, ^a   Cole, T ^a   Mueller, R F ^a   Bundey, S ^a   Nance, W ^a   Steel, K P ^a   Brown, S D M ^a  

^a VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HEARING IMPAIRMENT; HUMAN; LETTER; MALE; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SEGREGATION ANALYSIS; USHER SYNDROME;

EID: 0033358594     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302332     Document Type: Letter

References (12)

1. JD Eudy MD Weston S Yao DM Hoover HL Rehm M Ma-Edmonds D Yan Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa Science 280 1998 1753 1757
2. CI Hopes S Bundey D Proops AR Fielder Usher syndrome in the city of Birmingham—prevalence and clinical classification Br J Ophthalmol 81 1997 46 53
3. XZ Liu C Hope J Walsh V Newton XM Ke CY Liang LR Xu Mutations in the myosin VIIA gene cause a wide phenotypic spectrum including atypical Usher syndrome Am J Hum Genet 63 1998 909 912
4. XZ Liu J Walsh P Mburu J Kendrick-Jones MJTV Cope KP Steel SDM Brown Mutations in the myosin VIIA gene cause non-syndromic recessive deafness Nat Genet 16 1997 a 188 190
5. XZ Liu J Walsh Y Tamagawa K Kitamura Nishizawa KP Steel Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene Nat Genet 17 1997 b 268 269
6. L Pakarinen S Karjalainen KOJ Simola P Laippaia H Kaitalo Usher syndrome type 3 in Finland Larynoscope 105 1995 613 617
7. G Romeo VA McKusick Phenotypic diversity, allelic series and modifier genes Nat Genet 7 1994 451 453
8. T Rosenberg M Haim AM Hauch A Parving The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations Clin Genet 51 1997 314 317
9. EM Sankila L Pakarinen H Kaariainen K Aittomaki S Karjalainen P Sistonen A de la Chapelle Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q Hum Mol Genet 4 1995 93 98
10. RJH Smith CI Berlin JF Hejtmancil BJB Keats WJ Kimberling RA Lewis CG Moller Clinical diagnosis of the Usher syndromes Am J Med Genet 50 1994 32 38
11. D Weil S Blanchard J Kaplan P Guilford F Gibson J Walsh P Mburu Defective myosin VIIA gene responsible for Usher syndrome type 1B Nature 374 1995 60 61
12. U Wolf Identical mutations and phenotypic variation Hum Genet 100 1997 305 321