Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome -: art. no. e15

被引：47

作者：

Amir, RE

Fang, P

Yu, Z

Glaze, DG

Percy, AK

Zoghbi, HY

Roa, BB

Van den Veyver, IB

机构：

[1] Baylor Coll Med, Dept Obstet & Gynecol, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[3] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[4] Univ Alabama Birmingham, Civitan Int Res Ctr, Birmingham, AL USA

[5] Univ Alabama Birmingham, Dept Pediat, Birmingham, AL USA

[6] Univ Alabama Birmingham, Dept Neurol, Birmingham, AL 35294 USA

[7] Univ Alabama Birmingham, Dept Neurobiol, Birmingham, AL 35294 USA

[8] Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA

[9] Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA

[10] Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA

[11] Baylor Coll Med, Howard Hughes Med Inst, Houston, TX 77030 USA

来源：

JOURNAL OF MEDICAL GENETICS | 2005年 / 42卷 / 02期

关键词：

D O I：

10.1136/jmg.2004.026161

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页数：4

共 17 条

[1] ALLEN RC, 1992, AM J HUM GENET, V51, P1229
[2] Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, RE
Van den Veyver, IB
Wan, M
Tran, CQ
Francke, U
Zoghbi, HY
[J]. NATURE GENETICS, 1999, 23 (02) : 185 - 188
[3] Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients
Erlandson, A
Samuelsson, L
Hagberg, B
Kyllerman, M
Vujic, M
Wahlström, J
[J]. GENETIC TESTING, 2003, 7 (04): : 329 - 332
[4] Parental origin of de novo MECP2 mutations in Rett syndrome
Girard, M
Couvert, P
Carrié, A
Tardieu, M
Chelly, J
Beldjord, C
Bienvenu, T
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2001, 9 (03) : 231 - 236
[5] A PROGRESSIVE SYNDROME OF AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE IN GIRLS - RETTS SYNDROME - REPORT OF 35 CASES
HAGBERG, B
AICARDI, J
DIAS, K
RAMOS, O
[J]. ANNALS OF NEUROLOGY, 1983, 14 (04) : 471 - 479
[6] The major form of MeCP2 has a novel N-terminus generated by alternative splicing
Kriaucionis, S
Bird, A
[J]. NUCLEIC ACIDS RESEARCH, 2004, 32 (05) : 1818 - 1823
[7] Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome
Laccone, F
Jünemann, I
Whatley, S
Morgan, R
Butler, R
Huppke, P
Ravine, D
[J]. HUMAN MUTATION, 2004, 23 (03) : 234 - 244
[8] Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry
LaSalle, JM
Goldstine, J
Balmer, D
Greco, CM
[J]. HUMAN MOLECULAR GENETICS, 2001, 10 (17) : 1729 - 1740
[9] Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice
Luikenhuis, S
Giacometti, E
Beard, CF
Jaenisch, R
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2004, 101 (16) : 6033 - 6038
[10] Mutations and polymorphisms in the human methyl CpG-binding protein MECP2
Miltenberger-Miltenyi, G
Laccone, F
[J]. HUMAN MUTATION, 2003, 22 (02) : 107 - 115

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