Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness

Human Genetics

Volumn 111, Issue 1, 2002, Pages 26-30

  Ouyang, Xiao Mei ^a   Xia, Xia Juan ^b   Verpy, Elisabeth ^c   Du, Li Lin ^a   Pandya, Arti ^b   Petit, Christine ^c   Balkany, Thomas ^a   Nance, Walter E ^b   Liu, Xue Zhong ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

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

^c INSTITUT PASTEUR   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; DNA; MEPROBAMATE; PROLINE; SERINE; THREONINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CHINESE; CODON; CONTROLLED STUDY; EXON; EYE; FAMILY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; GENETIC TRANSCRIPTION; HEARING IMPAIRMENT; HUMAN; INNER EAR; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; USHER SYNDROME; USHER SYNDROME TYPE 1C; VESTIBULAR DISORDER;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ALTERNATIVE SPLICING; CARRIER PROTEINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN ISOFORMS; SYNDROME;

IMPLETA;

EID: 0036664454     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0736-0     Document Type: Article

References (17)

1. Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B (2000) A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet 26:56-60
2. Bolz H, Von Brederlow B, Ramirez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, Del C-Salcedo Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C (2001) Mutations of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat. Genet 27:108-12
3. Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ (2001) Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet 68:26-37
4. Eudy J D, Weston MD, Yao S, Hoover DM, Rehm H L, Ma-Edmonds M, Yan D, Ahmad I, Cheng JJ, Ayuso C, Cremers C, Davenport S, Moller C, Talmadge CB, Beisel KW, Kimberling WJ, Sumegi J (1998) Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 280:1753-57
5. Gorlin RJ, Toriello HV, Cohen MM (1995) Hereditary Hearing Loss and its Syndromes. Oxford University Press, Oxford, UK
6. Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJTV, Steel, KP, Brown SDM (1997a) Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 16:188-190
7. Liu XZ, Walsh J, Tamagawa Y, Kitamura K, Nishizawa, Steel KP, Brown SDM (1997b) Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet 17:268-269
8. Liu XZ, Xu LR, Hu Y, Nance WE, Sismanis A, Zhang SL, Xu Y (2001a) Epidemiological studies on hearing impairment with reference to genetic factors in Sichuan, China. Ann Otol Rhinol Laryngol 110:356-363
9. Liu XZ, Xia XJ, Ouyang XM, Hejtmancik JF, Jacobson S, Petit C, Bitner-Glindzicz M, Li AR, Newton VE, Nance WE (2001b) Mutation analysis in the USH1C gene. Abstracts of the Twenty-Second Annual Midwinter Research Meeting of the Association for Research in Otolaryngology. Abstract 958
10. Liu XZ, Xia XJ, Joe Adams, Chen ZY, Welch KO, Tekin M, Ouyang XM, Kristiansen A, Pandya A, Balkany T, Arnos KS, Nance WE (2001c) Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Hum Mol Genet 25:2945-2951
11. Petit C, Levilliers J, Hardelin J-P (2001) Molecular genetics of hearing loss. Annu Rev Genet 35: 589-645
12. Rivolta C, Sweklo EA, Berson EL, Dryja TP (2000) Missense mutation in the USH2A gene: Association with recessive retinitis pigmentosa without hearing loss. Am. J. Hum. Genet. 66:1975-1978
13. Sudol M (1998) From Src homology domains to other signalling modules: Proposal of the 'protein recognition code. Oncogene 17:1469-1474
14. Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C. (2000) A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet 26:51-55
15. Weil D, Blanchard S, Kaplan J, Guliford P, Gibson F, Walsh J, Mburu P, Varela A, Levillers J, Weston M D, Kelly P M, Kimberling WJ, Wagenaar M, Munnich A, Steel KP, Brown SDM, Petit C. (1995) Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374:60-61
16. Weil D, Kussel P, Blanchard S, Levy G, Levi-Acobas F, Drira F, Ayadi H, Petit C (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
17. Zwaenepoel I, Verpy E, Blanchard S, Meins M, Apfelstedt-Sylla E, Gal A, Petit C (2001) Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis Hum Mutat 17:34-41