Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly

被引：57
作者：
Lenski, C
Abidi, F
Meindl, A
Gibson, A
Platzer, M
Kooy, RF
Lubs, HA
Stevenson, RE
Ramser, J
Schwartz, CE [1 ]
机构：
[1] Univ Munich, Dept Med Genet, Munich, Germany
[2] Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA
[3] Royal Univ Hosp, Saskatoon, SK S7N 0W8, Canada
[4] Inst Mol Biotechnol, Jena, Germany
[5] Univ Antwerp, Dept Med Genet, B-2020 Antwerp, Belgium
[6] Univ Miami, Sch Med, Mailman Ctr Child Dev, Miami, FL USA
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2004年 / 74卷 / 04期
关键词：
D O I：
10.1086/383205
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：777 / 780
页数：4
相关论文
共 21 条
[11]   THE FRAGILE X-CHROMOSOME IN THE MARTIN-BELL-RENPENNING SYNDROME AND IN MALES WITH OTHER FORMS OF FAMILIAL MENTAL-RETARDATION [J].
PROOPS, R ;
WEBB, T .
JOURNAL OF MEDICAL GENETICS, 1981, 18 (05) :366-373
[12]  
RENPENNING H, 1962, CAN MED ASSOC J, V87, P954
[13]  
RICHARDS BW, 1970, LANCET, V2, P520
[14]  
STEELE MW, 1974, LANCET, V1, P752
[15]  
Stevenson RE, 2000, AM J MED GENET, V97, P174, DOI 10.1002/1096-8628(200023)97:3<174::AID-AJMG1034>3.0.CO
[16]  
2-4
[17]   Genetic syndromes among individuals with mental retardation [J].
Stevenson, RE ;
Procopio-Allen, AM ;
Schroer, RJ ;
Collins, JS .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 123A (01) :29-32
[18]   Clinical and molecular contributions to the understanding of X-linked mental retardation [J].
Stevenson, RE ;
Schwartz, CE .
CYTOGENETIC AND GENOME RESEARCH, 2002, 99 (1-4) :265-275
[19]   Renpenning syndrome maps to Xp11 [J].
Stevenson, RE ;
Arena, JF ;
Ouzts, E ;
Gibson, A ;
Shokeir, MHK ;
Vnencak-Jones, C ;
Lubs, HA ;
May, M ;
Schwartz, CE .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (05) :1092-1101
[20]   Functions of WW domains in the nucleus [J].
Sudol, M ;
Sliwa, K ;
Russo, T .
FEBS LETTERS, 2001, 490 (03) :190-195
123