A mutation in PDS causes non-syndromic recessive deafness

被引:285
作者
Li, XC
Everett, LA
Lalwani, AK
Desmukh, D
Friedman, TB
Green, ED
Wilcox, ER [1 ]
机构
[1] Natl Inst Deafness & Other Commun Disorders, Genet Mol Lab, NIH, Rockville, MD 20850 USA
[2] Natl Human Genome Res Inst, Genome Technol Branch, NIH, Bethesda, MD 20892 USA
[3] Univ Calif San Francisco, Sch Med, Div Otol Neurotol & Skullbase Surg, Dept Otolaryngol Head & Neck Surg, San Francisco, CA 94143 USA
[4] Ichalkaranji Tilawani, Rotary Deaf Sch, Kolhapur 416115, Maharashtra, India
关键词
D O I
10.1038/ng0398-215
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:215 / 217
页数:3
相关论文
共 13 条
[1]  
ARCAND P, 1991, J OTOLARYNGOL, V20, P247
[2]   LINKAGE OF CONGENITAL, RECESSIVE DEAFNESS (DFNB4) TO CHROMOSOME 7Q31 AND EVIDENCE FOR GENETIC-HETEROGENEITY IN THE MIDDLE-EASTERN DRUZE POPULATION [J].
BALDWIN, CT ;
WEISS, S ;
FARRER, LA ;
DESTEFANO, AL ;
ADAIR, R ;
FRANKLYN, B ;
KIDD, KK ;
KOROSTISHEVSKY, M ;
BONNETAMIR, B .
HUMAN MOLECULAR GENETICS, 1995, 4 (09) :1637-1642
[3]  
BATSAKIS JG, 1962, ARCHIV OTOLARYNGOL, V76, P401
[4]   Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) [J].
Everett, LA ;
Glaser, B ;
Beck, JC ;
Idol, JR ;
Buchs, A ;
Heyman, M ;
Adawi, F ;
Hazani, E ;
Nassir, E ;
Baxevanis, AD ;
Sheffield, VC ;
Green, ED .
NATURE GENETICS, 1997, 17 (04) :411-422
[5]   Pendred syndrome: Evidence for genetic homogeneity and further refinement of linkage [J].
Gausden, E ;
Coyle, B ;
Armour, JAL ;
Coffey, R ;
Grossman, A ;
Fraser, GR ;
Winter, RM ;
Pembrey, ME ;
KendallTaylor, P ;
Stephens, D ;
Luxon, LM ;
Phelps, PD ;
Reardon, W ;
Trembath, R .
JOURNAL OF MEDICAL GENETICS, 1997, 34 (02) :126-129
[6]   A TYPE-VII MYOSIN ENCODED BY THE MOUSE DEAFNESS GENE SHAKER-1 [J].
GIBSON, F ;
WALSH, J ;
MBURU, P ;
VARELA, A ;
BROWN, KA ;
ANTONIO, M ;
BEISEL, KW ;
STEEL, KP ;
BROWN, SDM .
NATURE, 1995, 374 (6517) :62-64
[7]   TC-99M CHELATORS IN NUCLEAR-MEDICINE - A REVIEW [J].
HJELSTUEN, OK .
ANALYST, 1995, 120 (03) :863-866
[8]   PENDREDS SYNDROME - ACOUSTIC, VESTIBULAR AND RADIOLOGICAL FINDINGS IN 17 UNRELATED PATIENTS [J].
JOHNSEN, T ;
LARSEN, C ;
FRIIS, J ;
HOUGAARDJENSEN, F .
JOURNAL OF LARYNGOLOGY AND OTOLOGY, 1987, 101 (11) :1187-1192
[9]   Mutations in the myosin VIIA gene cause non-syndromic recessive deafness [J].
Liu, XZ ;
Walsh, J ;
Mburu, P ;
KendrickJones, J ;
Cope, MJTV ;
Steel, KP ;
Brown, SDM .
NATURE GENETICS, 1997, 16 (02) :188-190
[10]   Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene [J].
Liu, XZ ;
Walsh, J ;
Tamagawa, Y ;
Kitamura, K ;
Nishizawa, M ;
Steel, KP ;
Brown, SDM .
NATURE GENETICS, 1997, 17 (03) :268-269