Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness

被引:48
作者
Ben-Yosef, T
Wattenhofer, M
Riazuddin, S
Ahmed, ZM
Scot, 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
机构
[1] NIDCD, Genet Mol Lab, NIH, Rockville, MD 20850 USA
[2] Univ Geneva, Sch Med, Grad Program Mol & Cellular Biol, CH-1211 Geneva, Switzerland
[3] Univ Punjab, Ctr Excellence Mol Biol, Lahore, Pakistan
[4] Univ Geneva, Sch Med, Div Med Genet, CH-1211 Geneva, Switzerland
[5] Keio Univ, Sch Med, Dept Mol Biol, Shinjuku Ku, Tokyo 1608582, Japan
[6] Tel Aviv Univ, Sackler Sch Med, Dept Human Genet & Mol Med, IL-69978 Tel Aviv, Israel
[7] Virginia Commonwealth Univ, Dept Human Genet, Richmond, VA 23298 USA
关键词
D O I
10.1136/jmg.38.6.396
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:396 / 400
页数:5
相关论文
共 18 条
  • [1] Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region
    Berry, A
    Scott, HS
    Kudoh, J
    Talior, I
    Korostishevsky, M
    Wattenhofer, M
    Guipponi, M
    Barras, C
    Rossier, C
    Shibuya, K
    Wang, J
    Kawasaki, K
    Asakawa, S
    Minoshima, S
    Shimizu, N
    Antonarakis, S
    Bonné-Tamir, B
    [J]. GENOMICS, 2000, 68 (01) : 22 - 29
  • [2] BonneTamir B, 1996, AM J HUM GENET, V58, P1254
  • [3] Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
    Bork, JM
    Peters, LM
    Riazuddin, S
    Bernstein, SL
    Ahmed, ZM
    Ness, SL
    Polomeno, R
    Ramesh, A
    Schloss, M
    Srisailpathy, CRS
    Wayne, S
    Bellman, S
    Desmukh, D
    Ahmed, Z
    Khan, SN
    Kaloustian, VMD
    Li, XC
    Lalwani, A
    Riazuddin, S
    Bitner-Glindzicz, M
    Nance, WE
    Liu, XZ
    Wistow, G
    Smith, RJH
    Griffith, AJ
    Wilcox, ER
    Friedman, TB
    Morell, RJ
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (01) : 26 - 37
  • [4] den Dunnen JT, 2000, HUM MUTAT, V15, P7
  • [5] A SIMPLE AND EFFICIENT NON-ORGANIC PROCEDURE FOR THE ISOLATION OF GENOMIC DNA FROM BLOOD
    GRIMBERG, J
    NAWOSCHIK, S
    BELLUSCIO, L
    MCKEE, R
    TURCK, A
    EISENBERG, A
    [J]. NUCLEIC ACIDS RESEARCH, 1989, 17 (20) : 8390 - 8390
  • [6] The prevalence and demographic characteristics of consanguineous marriages in Pakistan
    Hussain, R
    Bittles, AH
    [J]. JOURNAL OF BIOSOCIAL SCIENCE, 1998, 30 (02) : 261 - 275
  • [7] LATHROP GM, 1984, AM J HUM GENET, V36, P460
  • [8] A NOVEL TRYPSIN-LIKE SERINE PROTEASE (HEPSIN) WITH A PUTATIVE TRANSMEMBRANE DOMAIN EXPRESSED BY HUMAN-LIVER AND HEPATOMA-CELLS
    LEYTUS, SP
    LOEB, KR
    HAGEN, FS
    KURACHI, K
    DAVIE, EW
    [J]. BIOCHEMISTRY, 1988, 27 (03) : 1067 - 1074
  • [9] GENETIC EPIDEMIOLOGY OF HEARING IMPAIRMENT
    MORTON, NE
    [J]. ANNALS OF THE NEW YORK ACADEMY OF SCIENCES-SERIES, 1991, 630 : 16 - 31
  • [10] Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3
    PaoloniGiacobino, A
    Chen, HM
    Peitsch, MC
    Rossier, C
    Antonarakis, SE
    [J]. GENOMICS, 1997, 44 (03) : 309 - 320