G59S mutation in the GJB2 (Connexin 26) gene in a patient with Bart-Pumphrey syndrome

被引:29
作者
Alexandrino, F
Sartorato, EL
Marques-de-Faria, AP
Steiner, CE
机构
[1] Univ Estadual Campinas, Dept Med Genet, Fac Ciencias Med, BR-13081970 Campinas, SP, Brazil
[2] Univ Estadual Campinas, Ctr Biol Mol & Engn, Sao Paulo, Brazil
关键词
D O I
10.1002/ajmg.a.30822
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:282 / 284
页数:3
相关论文
共 22 条
[1]   KNUCKLE PADS LEUKONYCHIA AND DEAFNESS - A DOMIANTLY INHERITED SYNDROME [J].
BART, RS ;
PUMPHREY, RE .
NEW ENGLAND JOURNAL OF MEDICINE, 1967, 276 (04) :202-&
[2]   A GENE RESPONSIBLE FOR A DOMINANT FORM OF NEUROSENSORY NON-SYNDROMIC DEAFNESS MAPS TO THE NSRD1 RECESSIVE DEAFNESS GENE INTERVAL [J].
CHAIB, H ;
LINAGRANADE, G ;
GUILFORD, P ;
PLAUCHU, H ;
LEVILLIERS, J ;
MORGON, A ;
PETIT, C .
HUMAN MOLECULAR GENETICS, 1994, 3 (12) :2219-2222
[3]  
CROSBY EF, 1976, JOHNS HOPKINS MED J, V139, P90
[4]   A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. [J].
del Castillo, I ;
Villamar, M ;
Moreno-Pelayo, MA ;
del Castillo, FJ ;
Alvarez, A ;
Tellería, D ;
Menéndez, I ;
Moreno, F .
NEW ENGLAND JOURNAL OF MEDICINE, 2002, 346 (04) :243-U1
[5]   Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene [J].
Denoyelle, F ;
Weil, D ;
Maw, MA ;
Wilcox, SA ;
Lench, NJ ;
AllenPowell, DR ;
Osborn, AH ;
Dahl, HHM ;
Middleton, A ;
Houseman, MJ ;
Dode, C ;
Marlin, S ;
BoulilaElGgaied, A ;
Grati, M ;
Ayadi, H ;
BenArab, S ;
Bitoun, P ;
LinaGranade, G ;
Godet, J ;
Mustapha, M ;
Loiselet, J ;
ElZir, E ;
Aubois, A ;
Joannard, A ;
Levilliers, J ;
Garabedian, EN ;
Mueller, RF ;
Gardner, RJM ;
Petit, C .
HUMAN MOLECULAR GENETICS, 1997, 6 (12) :2173-2177
[6]   High carrier frequency of the 35delG deafness mutation in European populations [J].
Gasparini, P ;
Rabionet, R ;
Barbujani, G ;
Melchionda, S ;
Petersen, M ;
Brondum-Nielsen, K ;
Metspalu, A ;
Oitmaa, E ;
Pisano, M ;
Fortina, P ;
Zelante, L ;
Estivill, X .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (01) :19-23
[7]   Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness [J].
Green, GE ;
Scott, DA ;
McDonald, JM ;
Woodworth, GG ;
Sheffield, VC ;
Smith, RJH .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1999, 281 (23) :2211-2216
[8]   A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350) [J].
Heathcote, K ;
Syrris, P ;
Carter, ND ;
Patton, MA .
JOURNAL OF MEDICAL GENETICS, 2000, 37 (01) :50-51
[9]  
*HUM GEN MUT DAT, 2004, NUCL SUBST MISS NONS
[10]   Connexin 26 mutations in hereditary non-syndromic sensorineural deafness [J].
Kelsell, DP ;
Dunlop, J ;
Stevens, HP ;
Lench, NJ ;
Liang, JN ;
Parry, G ;
Mueller, RF ;
Leigh, IM .
NATURE, 1997, 387 (6628) :80-83