USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23

Clinical Genetics

Volumn 75, Issue 1, 2009, Pages 86-91

  Ahmed, Z M ^a   Riazuddin, S ^a,b   Khan, S N ^b   Friedman, P L ^c   Friedman, Thomas B ^a  

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b UNIVERSITY OF THE PUNJAB   (Pakistan)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

15q22 23; Deafness; DFNB48; Retinitis pigmentosa; USH1H; Usher syndrome; Vestibular dysfunction

Indexed keywords

MYOSIN; PROTEIN USH1H; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 15Q; CHROMOSOME 22; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; DNA ISOLATION; GENE FREQUENCY; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HEARING LOSS; HUMAN; LINKAGE ANALYSIS; PAKISTAN; PATHOGENESIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; USHER SYNDROME; VESTIBULAR DISORDER;

ADOLESCENT; ADULT; AGED; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; USHER SYNDROMES; YOUNG ADULT;

EID: 58149203209     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01038.x     Document Type: Article

References (40)

1. Smith RJ, Berlin CI, Hejtmancik JF et al. Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet 1994: 50: 32-38.
2. Boughman JA, Vernon M, Shaver KA. Usher syndrome: Definition and estimate of prevalence from two high-risk populations. J Chronic Dis 1983: 36: 595-603.
3. Brownstein Z, Ben-Yosef T, Dagan O et al. The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. Pediatr Res 2004: 55: 995-1000.
4. Vernon M. Usher's syndrome - deafness and progressive blindness. Clinical cases, prevention, theory and literature survey. J Chronic Dis 1969: 22: 133-151.
5. Ahmed ZM, Riazuddin S, Bernstein SL et al. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet 2001: 69: 25-34.
6. Alagramam KN, Yuan H, Kuehn MH et al. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet 2001: 10: 1709-1718.
7. Bitner-Glindzicz M, Lindley KJ, Rutland P et al. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet 2000: 26: 56-60.
8. Bolz H, von Brederlow B, Ramirez A et al. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet 2001: 27: 108-112.
9. Bork JM, Peters LM, Riazuddin S et al. 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 2001: 68: 26-37.
10. Ebermann I, Scholl HP, Charbel Issa P et al. A novel gene for Usher syndrome type 2: Mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Hum Genet 2007: 121: 203-211.
11. Joensuu T, Hamalainen R, Yuan B et al. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet 2001: 69: 673-684.
12. Verpy E, Leibovici M, Zwaenepoel I et al. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet 2000: 26: 51-55.
13. Weil D, Blanchard S, Kaplan J et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 1995: 374: 60-61.
14. Weil D, El-Amraoui A, Masmoudi S et al. 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 2003: 12: 463-471.
15. Weston MD, Eudy JD, Fujita S et al. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am J Hum Genet 2000: 66: 1199-1210.
16. Weston MD, Luijendijk MW, Humphrey KD et al. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet 2004: 74: 357-366.
17. Ben-Yosef T, Ness SL, Madeo AC et al. A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N Engl J Med 2003: 348: 1664-1670.
18. Ness SL, Ben-Yosef T, Bar-Lev A et al. Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J Med Genet 2003: 40: 767-772.
19. Riazuddin S, Nazli S, Ahmed ZM et al. Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Hum Mutat 2008: 29: 502-511.
20. Grimberg J, Nawoschik S, Belluscio L et al. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 1989: 17: 8390.
21. Schaffer AA. Faster linkage analysis computations for pedigrees with loops or unused alleles. Hum Hered 1996: 46: 226-235.
22. Khan SY, Ahmed ZM, Shabbir MI et al. Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. Hum Mutat 2007: 28: 417-423.
23. Ahmad J, Khan SN, Khan SY et al. DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1. Hum Genet 2005: 116: 407-412.
24. Peters LM, Belyantseva IA, Lagziel A et al. Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear. Genomics 2007: 89: 197-206.
25. Ahmed ZM, Riazuddin S, Ahmad J et al. 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 2003: 12: 3215-3223.
26. Petit C. Usher syndrome: From genetics to pathogenesis. Annu Rev Genomics Hum Genet 2001: 2: 271-297.
27. Mizuhara E, Nakatani T, Minaki Y et al. Corl1, a novel neuronal lineage-specific transcriptional corepressor for the homeodomain transcription factor Lbx1. J Biol Chem 2005: 280: 3645-3655.
28. Liu B, Liao J, Rao X et al. Inhibition of Stat1-mediated gene activation by PIAS1. Proc Natl Acad Sci U S A 1998: 95: 10626-10631.
29. de Kok YJ, van der Maarel SM, Bitner-Glindzicz M et al. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 1995: 267: 685-688.
30. Peters LM, Anderson DW, Griffith AJ et al. Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28. Hum Mol Genet 2002: 11: 2877-2885.
31. Vahava O, Morell R, Lynch ED et al. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science 1998: 279: 1950-1954.
32. Wayne S, Robertson NG, DeClau F et al. Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. Hum Mol Genet 2001: 10: 195-200.
33. Kalay E, Li Y, Uzumcu A et al. Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum Mutat 2006: 27: 633-639.
34. Naz S, Giguere CM, Kohrman DC et al. Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. Am J Hum Genet 2002: 71: 632-636.
35. Shabbir MI, Ahmed ZM, Khan SY et al. Mutations of human TMHS cause recessively inherited non-syndromic hearing loss. J Med Genet 2006: 43: 634-640.
36. Tlili A, Mannikko M, Charfedine I et al. A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family. Hum Hered 2005: 60: 123-128.
37. Gibson F, Walsh J, Mburu P et al. A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 1995: 374: 62-64.
38. Kikkawa Y, Shitara H, Wakana S et al. Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. Hum Mol Genet 2003: 12: 453-461.
39. Kremer H, van Wijk E, Marker T et al. Usher syndrome: Molecular links of pathogenesis, proteins and pathways. Hum Mol Genet 2006: 15: R262-R270.
40. El-Amraoui A, Petit C. Usher I syndrome: Unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells. J Cell Sci 2005: 118: 4593-4603.