메뉴 건너뛰기




Volumn 6, Issue 3, 1998, Pages 245-250

A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36

Author keywords

Gene localisation; Homozygosity mapping; Non syndromic sensorineural deafness

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 7Q; GENE MAPPING; GENETIC LINKAGE; HUMAN; PERCEPTION DEAFNESS; PRIORITY JOURNAL;

EID: 0031868537     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200177     Document Type: Article
Times cited : (26)

References (36)
  • 1
    • 0029807805 scopus 로고    scopus 로고
    • Genes responsible for human hereditary deafness: Symphony of a thousand
    • Petit C: Genes responsible for human hereditary deafness: symphony of a thousand. Nat Genet 1996; 14: 385-391.
    • (1996) Nat Genet , vol.14 , pp. 385-391
    • Petit, C.1
  • 3
    • 0028249690 scopus 로고
    • A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q
    • Guilford P, Ben Arab S, Blanchard S et al: A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet 1994; 6: 24-28.
    • (1994) Nat Genet , vol.6 , pp. 24-28
    • Guilford, P.1    Ben Arab, S.2    Blanchard, S.3
  • 4
    • 0028306509 scopus 로고
    • A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene
    • Guilford P, Ayadi H, Blanchard S et al: A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum Mol Genet 1994; 3: 989-993.
    • (1994) Hum Mol Genet , vol.3 , pp. 989-993
    • Guilford, P.1    Ayadi, H.2    Blanchard, S.3
  • 5
    • 16944364736 scopus 로고    scopus 로고
    • A new locus for non-syndromal autosomal recessive sensorineural hearing loss (DFNB16) maps to 15q21-q22
    • Campbell DA, McHale DP, Brown KA et al: A new locus for non-syndromal autosomal recessive sensorineural hearing loss (DFNB16) maps to 15q21-q22. J Med Genet 1997; 34: 1015-1017.
    • (1997) J Med Genet , vol.34 , pp. 1015-1017
    • Campbell, D.A.1    McHale, D.P.2    Brown, K.A.3
  • 6
    • 0030047197 scopus 로고    scopus 로고
    • A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23
    • Chaïb H, Place C, Salem N et al: A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23. Hum Mol Genet 1996; 5: 155-158.
    • (1996) Hum Mol Genet , vol.5 , pp. 155-158
    • Chaïb, H.1    Place, C.2    Salem, N.3
  • 7
    • 0030054738 scopus 로고    scopus 로고
    • Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22
    • Chaïb H, Place C, Salem N et al: Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22. Hum Mol Genet 1996; 5: 1061-1064.
    • (1996) Hum Mol Genet , vol.5 , pp. 1061-1064
    • Chaïb, H.1    Place, C.2    Salem, N.3
  • 8
    • 0028836920 scopus 로고
    • A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17
    • Friedman TB, Liang Y, Weber JL et al: A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nat Genet 1995; 9: 86-91.
    • (1995) Nat Genet , vol.9 , pp. 86-91
    • Friedman, T.B.1    Liang, Y.2    Weber, J.L.3
  • 9
    • 0029086703 scopus 로고
    • Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q
    • Fukushima K, Ramesh A, Srisailapathy CRS et al: Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q. Hum Mol Genet 1995; 4: 1643-1648.
    • (1995) Hum Mol Genet , vol.4 , pp. 1643-1648
    • Fukushima, K.1    Ramesh, A.2    Srisailapathy, C.R.S.3
  • 10
    • 0028862795 scopus 로고
    • An autosomal recessive non-syndromic form of sensorineural hearing loss maps to 3p-DFNB6
    • Fukushima K, Ramesh A, Srisailapathy CRS et al: An autosomal recessive non-syndromic form of sensorineural hearing loss maps to 3p-DFNB6. Genome Res 1995; 5: 305-308.
    • (1995) Genome Res , vol.5 , pp. 305-308
    • Fukushima, K.1    Ramesh, A.2    Srisailapathy, C.R.S.3
  • 11
    • 0028837681 scopus 로고
    • A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus
    • Jain PK, Fukushima K, Deshmukh D et al: A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus. Hum Mol Genet 1995; 4: 2391-2394.
    • (1995) Hum Mol Genet , vol.4 , pp. 2391-2394
    • Jain, P.K.1    Fukushima, K.2    Deshmukh, D.3
  • 12
    • 0029811339 scopus 로고    scopus 로고
    • An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds
    • Scott DA, Carmi R, Elbedour K, Yosefsberg S, Stone EM, Sheffield VC: An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. Am J Hum Genet 1996; 59: 385-391.
    • (1996) Am J Hum Genet , vol.59 , pp. 385-391
    • Scott, D.A.1    Carmi, R.2    Elbedour, K.3    Yosefsberg, S.4    Stone, E.M.5    Sheffield, V.C.6
  • 13
    • 0030070163 scopus 로고    scopus 로고
    • Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan
    • Veske A, Oehlmann R, Younus F et al: Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum Mol Genet 1996; 5: 165-168.
    • (1996) Hum Mol Genet , vol.5 , pp. 165-168
    • Veske, A.1    Oehlmann, R.2    Younus, F.3
  • 14
    • 0029883986 scopus 로고    scopus 로고
    • Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3
    • Bonné-Tamir B, DeStefano AL, Briggs CE et al: Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. Am J Hum Genet 1996; 58: 1254-1259.
    • (1996) Am J Hum Genet , vol.58 , pp. 1254-1259
    • Bonné-Tamir, B.1    DeStefano, A.L.2    Briggs, C.E.3
  • 15
    • 0029145428 scopus 로고
    • Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population
    • Baldwin CT, Weiss S, Farrer LA et al: Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Hum Mol Genet 1995; 4: 1637-1642.
    • (1995) Hum Mol Genet , vol.4 , pp. 1637-1642
    • Baldwin, C.T.1    Weiss, S.2    Farrer, L.A.3
  • 16
    • 8244263673 scopus 로고    scopus 로고
    • Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4
    • Coyle B, Coffey R, Armour JAL et al: Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nat Genet 1996; 12: 421-423.
    • (1996) Nat Genet , vol.12 , pp. 421-423
    • Coyle, B.1    Coffey, R.2    Armour, J.A.L.3
  • 17
    • 0029963073 scopus 로고    scopus 로고
    • Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification
    • Sheffield VC, Kraiem Z, Beck JC et al: Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. Nat Genet 1996; 12: 424-426.
    • (1996) Nat Genet , vol.12 , pp. 424-426
    • Sheffield, V.C.1    Kraiem, Z.2    Beck, J.C.3
  • 18
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map on the human genome based on 5,264 microsatellites
    • Dib C, Fauré S, Fizames C et al: A comprehensive genetic map on the human genome based on 5,264 microsatellites. Nature 1996; 380: 152-154.
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Fauré, S.2    Fizames, C.3
  • 19
    • 0031007349 scopus 로고    scopus 로고
    • Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
    • Kelsell DP, Dunlop J, Stevens HP et al: Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997; 387: 80-83.
    • (1997) Nature , vol.387 , pp. 80-83
    • Kelsell, D.P.1    Dunlop, J.2    Stevens, H.P.3
  • 20
    • 9844245885 scopus 로고    scopus 로고
    • Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
    • Zelante L, Gasparini P, Estivill X et al: Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997; 6: 1605-1609.
    • (1997) Hum Mol Genet , vol.6 , pp. 1605-1609
    • Zelante, L.1    Gasparini, P.2    Estivill, X.3
  • 21
    • 0030696315 scopus 로고    scopus 로고
    • Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: Implications for genetic studies in isolated populations
    • Carrasquillo MM, Zlotogora J, Barges S, Chakravarti A: Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet 1997; 6: 2163-2172.
    • (1997) Hum Mol Genet , vol.6 , pp. 2163-2172
    • Carrasquillo, M.M.1    Zlotogora, J.2    Barges, S.3    Chakravarti, A.4
  • 22
    • 9844252338 scopus 로고    scopus 로고
    • Prelingual deafness: High prevalence of a 30delG mutation in the connexin26 gene
    • Denoyelle F, Weil D, Maw MA et al: Prelingual deafness: high prevalence of a 30delG mutation in the connexin26 gene. Hum Mol Genet 1997; 6: 2173-2177.
    • (1997) Hum Mol Genet , vol.6 , pp. 2173-2177
    • Denoyelle, F.1    Weil, D.2    Maw, M.A.3
  • 23
    • 0030960855 scopus 로고    scopus 로고
    • Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
    • Liu X-Z, Walsh J, Mburu P et al: Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 1997; 16: 188-190.
    • (1997) Nat Genet , vol.16 , pp. 188-190
    • Liu, X.-Z.1    Walsh, J.2    Mburu, P.3
  • 24
    • 0030951102 scopus 로고    scopus 로고
    • The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA
    • Weil D, Küssel P, Blanchard S et al: The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA. Nat Genet 1997; 16: 191-193.
    • (1997) Nat Genet , vol.16 , pp. 191-193
    • Weil, D.1    Küssel, P.2    Blanchard, S.3
  • 25
    • 0028555358 scopus 로고
    • A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval
    • Chaïb H, Lina-Granade G, Guilford P et al: A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval. Hum Mol Genet 1994; 3: 2219-2222.
    • (1994) Hum Mol Genet , vol.3 , pp. 2219-2222
    • Chaïb, H.1    Lina-Granade, G.2    Guilford, P.3
  • 26
    • 0028815440 scopus 로고
    • Defective myosin VIIA gene responsible for Usher syndrome type 1B
    • Weil D, Blanchard S, Kaplan J et al: Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 1995; 374: 60-61.
    • (1995) Nature , vol.374 , pp. 60-61
    • Weil, D.1    Blanchard, S.2    Kaplan, J.3
  • 27
    • 0029898545 scopus 로고    scopus 로고
    • A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene
    • Tamagawa Y, Kitamura K, Ishida T et al: A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. Hum Mol Genet 1996; 5: 849-852.
    • (1996) Hum Mol Genet , vol.5 , pp. 849-852
    • Tamagawa, Y.1    Kitamura, K.2    Ishida, T.3
  • 28
    • 0028101967 scopus 로고
    • Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity
    • Jiang C, Atkinson D, Towbin JA et al: Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity. Nat Genet 1994; 8: 141-147.
    • (1994) Nat Genet , vol.8 , pp. 141-147
    • Jiang, C.1    Atkinson, D.2    Towbin, J.A.3
  • 29
    • 0031054075 scopus 로고    scopus 로고
    • A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
    • Neyroud N, Tesson F, Denjoy I et al: A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet 1997; 15: 186-189.
    • (1997) Nat Genet , vol.15 , pp. 186-189
    • Neyroud, N.1    Tesson, F.2    Denjoy, I.3
  • 30
    • 0028956422 scopus 로고
    • Chromosomal localization of mitochondrial transcription factor a (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis
    • Tiranti V, Rossi E, Ruiz-Carrillo A et al: Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis. Genomics 1995; 25: 559-564.
    • (1995) Genomics , vol.25 , pp. 559-564
    • Tiranti, V.1    Rossi, E.2    Ruiz-Carrillo, A.3
  • 31
    • 0027226069 scopus 로고
    • Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
    • Prezant TR, Agapian JV, Bohlman MC et al: Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993; 4: 289-294.
    • (1993) Nat Genet , vol.4 , pp. 289-294
    • Prezant, T.R.1    Agapian, J.V.2    Bohlman, M.C.3
  • 32
    • 0028288558 scopus 로고
    • A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
    • Reid FM, Vernham GA, Jacobs HT: A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat 1994; 3: 243-247.
    • (1994) Hum Mutat , vol.3 , pp. 243-247
    • Reid, F.M.1    Vernham, G.A.2    Jacobs, H.T.3
  • 34
    • 0031049863 scopus 로고    scopus 로고
    • Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation
    • Reid FM, Rovio A, Holt IJ, Jacobs HT: Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation. Hum Mol Genet 1997; 6: 443-449.
    • (1997) Hum Mol Genet , vol.6 , pp. 443-449
    • Reid, F.M.1    Rovio, A.2    Holt, I.J.3    Jacobs, H.T.4
  • 36
    • 0028857541 scopus 로고
    • Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping
    • Kruglyak L, Daly MJ, Lander ES: Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet 1995; 56: 519-527.
    • (1995) Am J Hum Genet , vol.56 , pp. 519-527
    • Kruglyak, L.1    Daly, M.J.2    Lander, E.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.