Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

Human Genetics

Volumn 112, Issue 2, 2003, Pages 156-163

  De Brouwer, Arjan P M ^a   Pennings, Ronald J E ^a   Roeters, Marjolijn ^b   Van Hauwe, Peter ^a   Astuto, Lisa M ^c   Hoefsloot, Lies H ^a   Huygen, Patrick L M ^a   Van Den Helm, Bellinda ^a   Deutman, August F ^a   Bork, Julie M ^d   Kimberling, William J ^c   Cremers, Frans P M ^a   Cremers, Cor W R J ^a   Kremer, Hannie ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^c BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; CADHERIN; CADHERIN 23; CALCIUM BINDING PROTEIN; GLUTAMIC ACID; UNCLASSIFIED DRUG; UVOMORULIN; CALCIUM; CDH23 PROTEIN, HUMAN; CONNEXIN 26; GAP JUNCTION PROTEIN; PRIMER DNA;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BINDING AFFINITY; CALCIUM BINDING MOTIF; CELL LEVEL; DNA BINDING MOTIF; FAMILIAL INCIDENCE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; HEARING LOSS; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; HUMAN CELL; MISSENSE MUTATION; MOLECULAR MODEL; PHENOTYPE; PRIORITY JOURNAL; ALLELE; AMINO ACID SEQUENCE; CHEMICAL STRUCTURE; CONSANGUINITY; FEMALE; GENE DELETION; GENETIC LINKAGE; GENETICS; GENOTYPE; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; RECESSIVE GENE; SEQUENCE HOMOLOGY; SYNDROME; VESTIBULAR TEST;

ALLELES; AMINO ACID SEQUENCE; CADHERINS; CALCIUM; CONNEXINS; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; GENES, RECESSIVE; GENETIC HETEROGENEITY; GENOTYPE; HEARING LOSS; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME; VESTIBULAR FUNCTION TESTS;

EID: 0037317439     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0833-0     Document Type: Article

References (67)

1. Alattia JR, Ames JB, Porumb T, Tong KI, Heng YM, Ottensmeyer P, Kay CM, Ikura M (1997) Lateral self-assembly of E-cadherin directed by cooperative calcium binding. FEBS Lett 417:405-408
2. Alattia JR, Kurokawa H, Ikura M (1999) Structural view of cadherin-mediated cell-cell adhesion. Cell Mol Life Sci 55:359-367
3. Angst BD, Marcozzi C, Magee AI (2001) The cadherin superfamily: Diversity in form and function. J Cell Sci 114:629-641
4. Astuto LM, Weston MD, Ashew JW, Fields RR, Orten DJ, Kelley PM, Carney CA, Bork JM, Morell RJ, Kremer H, Van Hauwe P, Cremers CWRJ, Kimberling WJ (2002) CDH23 mutation and phenotype heterogeneity: Profile of 94 diverse Usher 1D and non-syndromic deafness families. Am J Hum Genet 71:262-275
5. Ben Arab S, Hmani M, Denoyelle F, Boulila-Elgaied A, Chardenoux S, Hachicha S, Petit C, Ayadi H (2000) Mutations of GJB2 in three geographic isolates from northern Tunisia: Evidence for genetic heterogeneity within isolates. Clin Genet 57:439-443
6. Berx G, Becker KF, Hofler H, Roy F Van (1998) Mutations of the human E-cadherin (CDH1) gene. Hum Mutat 12:226-237
7. Bolz H, Brederlow B Von, Ramirez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, C.-Salcedo Cabrera M Del, Vila MC, Molina OP, Gal A, Kubisch C (2001) Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet 27:108-112
8. Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, 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
9. Bryda EC, Kim HJ, Legare ME, Frankel WN, Noben-Trauth K (2001) High-resolution genetic and physical mapping of modifier-of-deafwaddler (mdfw) and Waltzer (Cdh23v). Genomics 73:338-342
10. Carrasquillo MM, Zlotogora J, Barges S, Chakravarti A (1997) Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: Implications for genetic studies in isolated populations. Hum Mol Genet 6:2163-2172
11. Chaib H, Place C, Salem N, Dode C, Chardenoux S, Weissenbach J, Zir E El, Loiselet J, Petit C (1996) Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22. Hum Mol Genet 5:1061-1064
12. Chakrabarti P (1990) Systematics in the interaction of metal ions with the main-chain carbonyl group in protein structures. Biochemistry 29:651-658
13. Chakrabarti P (1994) Conformational analysis of carboxylate and carboxamide side-chains bound to cations. J Mol Biol 239:306-314
14. Chinea G, Padron G, Hooft RW, Sander C, Vriend G (1995) The use of position-specific rotamers in model building by homology. Proteins 23:415-421
15. Del Castillo I, Villamar M, Moreno-Pelayo MA, Del Castillo FJ, Alvarez A, Telleria D, Menendez I, Moreno F (2002) A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med 346:243-249
16. Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dode C, Marlin S, Boulila-ElGaied A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, Zir E El, Aubois A, Jonnard A, Petit C (1997) Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 6:2173-2177
17. Di Palma F, Holme RH, Bryda EC, Belyantseva IA, Pellegrino R, Kachar B, Steel KP, Noben-Trauth K (2001) Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. Nat Genet 27:103-107
18. 2+-ATPase isoform 2a is the PMCA of hair bundles. J Neurosci 21:5066-5078
19. Dunnen JT Den, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121-124
20. Estivill X, Fortina P, Surrey S, Rabionet R, Melchiondra S, D'Agruma L, Mansfield E, Rappaport E, Govea N, Mila M, Zelante L, Gasparini P (1998) Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 351:394-398
21. Gorlin RJ, Toriello HV, Cohen MM (1995) Hereditary Hearing Loss and Its Syndromes. Oxford University Press, Oxford
22. Grunwald GB (1993) The structural and functional analysis of cadherin calcium-dependent cell adhesion molecules. Curr Opin Cell Biol 5:797-805
23. Hofmann K, Bucher P, Falquet L, Bairoch A (1999) The PROSITE database, its status in 1999. Nucleic Acids Res 27:215-219
24. Katsanis N, Lupski JR, Beales PL (2001) Exploring the molecular basis of Bardet-Biedl syndrome. Hum Mol Genet 10:2293-2299
25. Keats BJ, Corey DP (1999) The Usher syndromes. Am J Med Genet 89:158-166
26. Kelley PM, Cohn E, Kimberling WJ (2000) Connexin 26: Required for normal auditory function. Brain Res Brain Res Rev 32: 184-188
27. Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM (1997) Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387:80-83
28. Koch AW, Pokutta S, Lustig A, Engel J (1997) Calcium binding and homoassociation of E-cadherin domains. Biochemistry 36:7697-7705
29. Kraulis JP (1991) MOLSCRIPT: A program to produce both detailed and schematic plots of protein structures. J Appl Crystallogr 24:946-950
30. Kremer H, Pinckers A, Van Den Helm B, Deutman AF, Ropers HH, Mariman EC (1994) Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p. Hum Mol Genet 3:299-302
31. Kros CJ, Marcotti W, Netten SM Van, Self TJ, Libby RT, Brown SD, Richardson GP, Steel KP (2002) Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations. Nat Neurosci 5:41-47
32. Lane PW (1987) Deaf waddler (dfw). Mouse News Lett 77:129
33. Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
34. Lathrop GM, Lalouel JM, White RL (1986) Construction of human linkage maps: Likelihood calculations for multilocus linkage analysis. Genet Epidemiol 3:39-52
35. Lefebvre PP, Van De Water TR (2000) Connexins, hearing and deafness: Clinical aspects of mutations in the connexin 26 gene. Brain Res Brain Res Rev 32:159-162
36. Linksz A (1964) An Essay on Color Vision. Grune and Stratton, New York
37. Liu XZ, Blanton SH, Bitner-Glindzicz M, Pandaya A, Landa B, MacArdle B, Rajput K, Bellman S, Webb BT, Ping X, Smith RJ, Nance WE (2001) Haplotype analysis of the USH1D locus and genotype-phenotype correlations. Clin Genet 60:58-62
38. Machado JC, Soares P, Carneiro F, Rocha A, Beck S, Blin N, Berx G, Sobrinho-Simoes M (1999) E-cadherin gene mutations provide a genetic basis for the phenotypic divergence of mixed gastric carcinomas. Lab Invest 79:459-465
39. Marmor MF, Zrenner E (1993) Standard for clinical electro-oculography. International Society for Clinical Electrophysiology of Vision. Arch Ophthalmol 111:601-604
40. Marmor MF, Zrenner E (1998) Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision. Doc Ophthalmol 97:143-156
41. Marres HAM, Cremers CWRJ (1989) Autosomal recessive non-syndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers. Arch Otolaryngol Head Neck Surg 115:591-595
42. Merritt EA, Bacon DJ (1997) Raster3D: Photorealistic molecular graphics. Methods Enzymol 277:505-524
43. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
44. Morton NE (1991) Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 630:16-31
45. Nagar B, Overduin M, Ikura M, Rini JM (1996) Structural basis of calcium-induced E-cadherin rigidification and dimerization. Nature 380:360-364
46. Noben-Trauth K, Zheng QY, Johnson KR, Nishina PM (1997) mdfw: A deafness susceptibility locus that interacts with deaf waddler (dfw). Genomics 44:266-272
47. Nollet F, Kools P, Roy F Van (2000) Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members. J Mol Biol 299:551-572
48. Pinckers AJLG (1984) Clinical colour vision examination. Doc Ophthalmol Proc Ser 39:171-179
49. Pinckers AJLG, Hardus P, Nabbe B (1983) The EOG in unilateral eye disease: Injuries. Graefes Arch Clin Exp Ophthalmol 220:87-91
50. Pokutta S, Herrenknecht K, Kemler R, Engel J (1994) Conformational changes of the recombinant extracellular domain of E-cadherin upon calcium binding. Eur J Biochem 223:1019-1026
51. Pouliot Y (1992) Phylogenetic analysis of the cadherin superfamily. Bioessays 14:743-748
52. Povey S, Lovering R, Bruford E, Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). Hum Genet 109:678-680
53. Richard I, Broux O, Allamand V, Fougerrousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C (1995) Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 81:27-40
54. Saito T, Oda Y, Sugimachi K, Kawaguchi KK, Tamiya S, Tanaka K, Matsuda S, Sakamoto A, Iwamoto Y, Tsuneyoshi M (2001) E-cadherin gene mutations frequently occur in synovial sarcoma as a determinant of histological features. Am J Pathol 159:2117-2124
55. Steel KP, Kros CJ (2001) A genetic approach to understanding auditory function. Nat Genet 27:143-149
56. 2+-ATPase gene cause deafness in deafwaddler mice. Nat Genet 19:390-394
57. Strynadka NC, James MN (1989) Crystal structures of the helix-loop-helix calcium-binding proteins. Annu Rev Biochem 58:951-998
58. Suzuki ST (1996) Protocadherins and diversity of the cadherin superfamily. J Cell Sci 109:2609-2611
59. Theunissen EJJM, Huygen PLM, Folgering HT (1986) Vestibular hyperreactivity and hyperventilation. Clin Otolaryngol 11:161-169
60. Thijssen JM, Pinckers A, Otto AJ (1974) A multipurpose optical system for ophthalmic electrodiagnosis. Ophthalmologica 168:308-314
61. Thompson JD, Higgins DG, Gibson TJ (1994) CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 22:4673-4680
62. Vriend G (1996) WHAT IF: A molecular modeling and drug design program. J Mol Graph 8:52-56
63. Wada T, Wakabayashi Y, Takahashi S, Ushiki T, Kikkawa Y, Yonekawa H, Kominami R (2001) A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer mouse niigata. Biochem Biophys Res Commun 283:113-117
64. Wilson SM, Householder DB, Coppola V, Tessarollo L, Fritzsch B, Lee EC, Goss D, Carlson GA, Copeland NG, Jenkins NA (2001) Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice. Genomics 74:228-233
65. Yagi T, Takeichi M (2000) Cadherin superfamily genes: Functions, genomic organization, and neurologic diversity. Genes Dev 14:1169-1180
66. 2+ from hair cell stereocilia. J Neurosci 18:610-624
67. Yap AS, Brieher WM, Gumbiner BM (1997) Molecular and functional analysis of cadherin-based adherens junctions. Annu Rev Cell Dev Biol 13:119-146