Gene structure and mutant alleles of PCDH15: Nonsyndromic deafness DFNB23 and type 1 Usher syndrome

Human Genetics

Volumn 124, Issue 3, 2008, Pages 215-223

  Ahmed, Zubair M ^a   Riazuddin, Saima ^a   Aye, Sandar ^a   Ali, Rana A ^b   Venselaar, Hanka ^c   Anwar, Saima ^b   Belyantseva, Polina P ^a   Qasim, Muhammad ^b   Riazuddin, Sheikh ^b   Friedman, Thomas B ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b UNIVERSITY OF THE PUNJAB   (Pakistan)

^c RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN; PROTOCADHERIN 15; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; CHILD; CHROMOSOME 10Q; DELETION MUTANT; EXON; FAMILY STUDY; FEMALE; GENE MUTATION; GENE STRUCTURE; GENETIC SCREENING; HEARING IMPAIRMENT; HOMOZYGOTE; HUMAN; INTRON; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR MODEL; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NONSYNDROMIC DEAFNESS; NUCLEOTIDE SEQUENCE; PAKISTAN; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN DOMAIN; REGULATORY SEQUENCE; RNA SPLICING; USHER SYNDROME; USHER SYNDROME TYPE 1;

ALLELES; AMINO ACID SEQUENCE; CADHERINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; HEARING LOSS; HUMANS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SEQUENCE HOMOLOGY, AMINO ACID; USHER SYNDROMES;

EID: 53749084609     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-008-0543-3     Document Type: Article

References (34)

1. Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Wilcox ER (2001) Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet 69:25-34
2. Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PS, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER (2002) Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Hum Genet 110:527-531
3. Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER (2003) PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet 12:3215-3223
4. Ahmed ZM, Goodyear R, Riazuddin S, Lagziel A, Legan PK, Behra M, Burgess SM, Lilley KS, Wilcox ER, Riazuddin S, Griffith AJ, Frolenkov GI, Belyantseva IA, Richardson GP, Friedman TB (2006) The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. J Neurosci 26:7022-7034
5. Ahmed Z, Riazuddin S, Khan S, Friedman P, Riazuddin S, Friedman T (2008) USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q 22-23. Clin Genet. doi: 10.1111/j1399-0004.2008.01038.x
6. Alagramam KN, Murcia CL, Kwon HY, Pawlowski KS, Wright CG, Woychik RP (2001a) The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nat Genet 27:99-102
7. Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C, Morton CC, Mullins RF, Ramesh A, Van Camp G, Hageman GS, Woychik RP, Smith RJ, Hagemen GS (2001b) Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet 10:1709-1718
8. Alagramam KN, Miller ND, Adappa ND, Pitts DR, Heaphy JC, Yuan H, Smith RJ (2007) Promoter, alternative splice forms, and genomic structure of protocadherin 15. Genomics 90:482-492
9. 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
10. Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ (2002) CDH23 mutation and phenotype heterogeneity: A profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am J Hum Genet 71:262-275
11. Ball SL, Bardenstein D, Alagramam KN (2003) Assessment of retinal structure and function in Ames waltzer mice. Invest Ophthalmol Vis Sci 44:3986-3992
12. Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RJ, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB (2003) A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N Engl J Med 348:1664-1670
13. Bergstrom L, Hemenway WG, Downs MP (1971) A high risk registry to find congenital deafness. Otolaryngol Clin North Am 4:369-399
14. Bolz H, von Brederlow B, Ramirez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, 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
15. 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, 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
16. Cremers FP, Kimberling WJ, Kulm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H (2007) Development of a genotyping microarray for Usher syndrome. J Med Genet 44:153-160
17. Haywood-Watson RJ 2nd, Ahmed ZM, Kjellstrom S, Bush RA, Takada Y, Hampton LL, Battey JF, Sieving PA, Friedman TB (2006) Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts. Invest Ophthalmol Vis Sci 47:3074-3084
18. He W, Cowin P, Stokes DL (2003) Untangling desmosomal knots with electron tomography. Science 302:109-113
19. Hutchin T, Coy NN, Conlon H, Telford E, Bromelow K, Blaydon D, Taylor G, Coghill E, Brown S, Trembath R, Liu XZ, Bitner-Glindzicz M, Mueller R (2005) Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing. Clin Genet 68:506-512
20. Kazmierczak P, Sakaguchi H, Tokita J, Wilson-Kubalek EM, Milligan RA, Muller U, Kachar B (2007) Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells. Nature 449:87-91
21. Krieger E, Koraimann G, Vriend G (2002) Increasing the precision of comparative models with YASARA NOVA - a self-parameterizing force field. Proteins 47:393-402
22. Le Guedard S, Faugere V, Malcolm S, Claustres M, Roux AF (2007) Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome. Mol Vis 13:102-107
23. Morton NE (1991) Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 630:16-31
24. Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ (2005) Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum Genet 116:292-299
25. Petit C (2001) Usher syndrome: From genetics to pathogenesis. Annu Rev Genomics Hum Genet 2:271-297
26. Prakasam AK, Maruthamuthu V, Leckband DE (2006) Similarities between heterophilic and homophilic cadherin adhesion. Proc Natl Acad Sci USA 103:15434-15439
27. Riazuddin S, Nazli S, Ahmed ZM, Yang Y, Zulfiqar F, Shaikh RS, Zafar AU, Khan SN, Sabar F, Javid FT, Wilcox ER, Tsilou E, Boger ET, Sellers JR, Belyantseva IA, Riazuddin S, Friedman TB (2008) Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Hum Mutat 29:502-511
28. Rouget-Quermalet V, Giustiniani J, Marie-Cardine A, Beaud G, Besnard F, Loyaux D, Ferrara P, Leroy K, Shimizu N, Gaulard P, Bensussan A, Schmitt C (2006) Protocadherin 15 (PCDH15): A new secreted isoform and a potential marker for NK/T cell lymphomas. Oncogene 25:2807-2811
29. Roux AF, Faugere V, Le Guedard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M (2006) Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. J Med Genet 43:763-768
30. Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Moller CG, Pelias MZ, Tranebjaerg L (1994) Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet 50:32-38
31. Vriend G (1990) WHAT IF: A molecular modeling and drug design program. J Mol Graph 8:52-56, 29
32. Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD et al (1995) Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374:60-61
33. Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Laine S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C (2003) Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet 12:463-471
34. Zheng QY, Yan D, Ouyang XM, Du LL, Yu H, Chang B, Johnson KR, Liu XZ (2005) Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. Hum Mol Genet 14:103-111