A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12 [1]

American Journal of Medical Genetics

Volumn 138 A, Issue 4, 2005, Pages 392-395

  Shaikh, Rehan Sadiq ^a   Ramzan, Khushnooda ^a   Nazli, Sabiha ^a   Sattar, Sameera ^a   Khan, Shaheen N ^a   Riazuddin, Saima ^b   Ahmed, Zubair M ^b   Friedman, Thomas B ^b   Riazuddin, Sheikh ^a  

^a UNIVERSITY OF THE PUNJAB   (Pakistan)

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

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 11P; CHROMOSOME MAP; CONGENITAL DEAFNESS; DFNB51 GENE; DNA EXTRACTION; GENE; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GENETIC MARKER; GENETIC RECOMBINATION; GENETIC TRAIT; GENOME ANALYSIS; HAPLOTYPE; HOMOZYGOSITY; HUMAN; LETTER; MICROSATELLITE MARKER; NUCLEOTIDE SEQUENCE; PEDIGREE; PENETRANCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; DEAFNESS; FEMALE; HUMANS; LOD SCORE; MALE; MEMBRANE PROTEINS; NEOPLASM PROTEINS; PEDIGREE; SERINE ENDOPEPTIDASES;

EID: 27444433989     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30949     Document Type: Letter

References (27)

1. Ahmed ZM, Li XC, Powell SD, Riazuddin S, Young TL, Ramzan K, Ahmad Z, Luscombe S, Dhillon K, MacLaren L, Ploplis B, Shotland LI, Ives E, Riazuddin S, Friedman TB, Morell RJ, Wilcox ER. 2004. Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. BMC Med Genet 5:24.
2. Belyantseva IA, Boger ET, Naz S, Frolenkov GI, Sellers JR, Ahmed ZM, Griffith AJ, Friedman TB. 2005. Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Nat Cell Biol 7:148-156.
3. Ben-Yosef T, Wattenhofer M, Riazuddin S, Ahmed ZM, Scott HS, Kudoh J, Shibuya K, Antonarakis SE, Bonne-Tamir B, Radhakrishna U, Naz S, Ahmed Z, Riazuddin S, Pandya A, Nance WE, Wilcox ER, Friedman TB, Morell RJ. 2001. Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. J Med Genet 38:396-400.
4. Bretscher A. 1999. Regulation of cortical structure by the ezrin-radixin-moesin protein family. Curr Opin Cell Biol 11:109-116.
5. Delprat B, Michel V, Goodyear R, Yamasaki Y, Michalski N, El-Amraoui A, Perfettini I, Legrain P, Richardson G, Hardelin JP, Petit C. 2005. Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly. Hum Mol Genet 14:401-410.
6. Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED. 1997. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 17:411-422.
7. Forge A, Wright T. 2002. The molecular architecture of the inner ear. Br Med Bull 63:5-24.
8. Friedman TB, Griffith AJ. 2003. Human nonsyndromic ensorineural deafness. Annu Rev Genomics Hum Genet 4:341-402.
9. Frolenkov GI, Belyantseva IA, Friedman TB, Griffith AJ. 2004. Genetic insights into the morphogenesis of inner ear hair cells. Nat Rev Genet 5:489-498.
10. Grimberg J, Nawoschik S, Belluscio L, McKee R, Turck A, Eisenberg A. 1989. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 17:8390.
11. Hirao M, Sato N, Kondo T, Yonemura S, Monden M, Sasaki T, Takai Y, Tsukita S, Tsukita S. 1996. Regulation mechanism of ERM (ezrin/radixin/moesin) protein/plasma membrane association: Possible involvement of phosphatidylinositol turnover and Rho-dependent signaling pathway. J Cell Biol 135:37-51.
12. Kanai Y, Hediger MA. 2004. The glutamate/neutral amino acid transporter family SLC1: Molecular, physiological, and pharmacological aspects. Pflugers Arch 447:469-479.
13. Kitajiri S, Fukumoto K, Hata M, Sasaki H, Katsuno T, Nakagawa T, Ito J, Tsukita S, Tsukita S. 2004. Radixin deficiency causes deafness associated with progressive degeneration of cochlear stereocilia. J Cell Biol 166:559-570.
14. Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER. 1998. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 18:215-217.
15. Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Menon PS, Smith T, Smith AC, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB. 2001. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet 109:535-541.
16. Lin JC, Ho WH, Gurney A, Rosenthal A. 2003. The netrin-G1 ligand NGL-1 promotes the outgrowth of thalamocortical axons. Nat Neurosci 6:1270-1276.
17. Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS, Perfettini I, Parkinson N, Mallon AM, Glenister P, Rogers MJ, Paige AJ, Moir L, Clay J, Rosenthal A, Liu XZ, Blanco G, Steel KP, Petit C, Brown SD. 2003. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet 34:421-428.
18. Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ. 2003. Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: Global implications for the epidemiology of deafness. J Med Genet 40:242-248.
19. Pataky F, Pironkova R, Hudspeth AJ. 2004. Radixin is a constituent of stereocilia in hair cells. Proc Natl Acad Sci USA 101:2601-2606.
20. Povey S, Levering R, Bruford E, Wright M, Lush M, Wain H. 2001. The HUGO Gene Nomenclature Committee (HGNC). Hum Genet 109:678-680.
21. Schaffer AA. 1996. Faster linkage analysis computations for pedigrees with loops or unused alleles. Hum Hered 46:226-235.
22. Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, Chrast R, Guipponi M, Wang J, Kawasaki K, Asakawa S, Minoshima S, Younus F, Mehdi SQ, Radhakrishna U, Papasavvas MP, Gehrig C, Rossier C, Korostishevsky M, Gal A, Shimizu N, Bonne-Tamir B, Antonarakis SE. 2001. Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat Genet 27:59-63.
23. Tanaka K, Watase K, Manabe T, Yamada K, Watanabe M, Takahashi K, Iwama H, Nishikawa T, Ichihara N, Kikuchi T, Okuyama S, Kawashima N, Hori S, Takimoto M, Wada K. 1997. Epilepsy and exacerbation of brain injury in mice lacking the glutamate transporter GLT-1. Science 276:1699-1702.
24. Thorne RF, Legg JW, Isacke CM. 2004. The role of the CD44 transmembrane and cytoplasmic domains in co-ordinating adhesive and signalling events. J Cell Sci 117:373-380.
25. Underhill C. 1992. CD44: The hyaluronan receptor. J Cell Sci 03:293-298.
26. Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ. 1999. Nonsyndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 104:188-192.
27. Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB. 1998. Association of unconventional myosin MY015 mutations with human nonsyndromic deafness DFNB3. Science 280:1447-1451.