X-linked mental retardation

被引：342

作者：

Ropers, HH

Hamel, BCJ

机构：

[1] Max Planck Inst Mol Genet, D-14195 Berlin, Germany

[2] Univ Med Ctr Nijmegen, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands

来源：

NATURE REVIEWS GENETICS | 2005年 / 6卷 / 01期

关键词：

D O I：

10.1038/nrg1501

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Genetic factors have an important role in the aetiology of mental retardation. However, their contribution is often underestimated because in developed countries, severely affected patients are mainly sporadic cases and familial cases are rare. X-chromosomal mental retardation is the exception to this rule, and this is one of the reasons why research into the genetic and molecular causes of mental retardation has focused almost entirely on the X-chromosome. Here, we review the remarkable recent progress in this field, its promise for understanding neural function, learning and memory, and the implications of this research for health care.

引用

页码：46 / 57

页数：12

共 150 条

[1] A NOVEL X-GENE WITH A WIDELY TRANSCRIBED Y-LINKED HOMOLOG ESCAPES X-INACTIVATION IN MOUSE AND HUMAN [J].

AGULNIK, AI ;

MITCHELL, MJ ;

MATTEI, MG ;

BORSANI, G ;

AVNER, PA ;

LERNER, JL ;

BISHOP, CE .

HUMAN MOLECULAR GENETICS, 1994, 3 (06) :879-884

[2] PAK3 mutation in nonsyndromic X-linked mental retardation [J].

Allen, KM ;

Gleeson, JG ;

Bagrodia, S ;

Partington, MW ;

MacMillan, JC ;

Cerione, RA ;

Mulley, JC ;

Walsh, CA .

NATURE GENETICS, 1998, 20 (01) :25-30

[3] Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 [J].

Amir, RE ;

Van den Veyver, IB ;

Wan, M ;

Tran, CQ ;

Francke, U ;

Zoghbi, HY .

NATURE GENETICS, 1999, 23 (02) :185-188

[4]

[Anonymous], 1980, International classification of impairments, disabilities and handicaps

[5] IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis [J].

Bahi, N ;

Friocourt, G ;

Carrié, A ;

Graham, ME ;

Weiss, JL ;

Chafey, P ;

Fauchereau, F ;

Burgoyne, RD ;

Chelly, J .

HUMAN MOLECULAR GENETICS, 2003, 12 (12) :1415-1425

[6] Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association [J].

Bérubé, NG ;

Smeenk, CA ;

Picketts, DJ .

HUMAN MOLECULAR GENETICS, 2000, 9 (04) :539-547

[7] The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene [J].

Bhalla, K ;

Phillips, HA ;

Crawford, J ;

McKenzie, OLD ;

Mulley, JC ;

Eyre, H ;

Gardner, AE ;

Kremmidiotis, G ;

Callen, DF .

JOURNAL OF HUMAN GENETICS, 2004, 49 (06) :308-311

[8] Five years of molecular diagnosis of Fragile X syndrome(1997-2001): A collaborative study reporting 95% of the activity in France [J].

Biancalana, V ;

Beldjord, C ;

Taillandier, A ;

Szpiro-Tapia, S ;

Cusin, V ;

Gerson, F ;

Philippe, C ;

Mandel, JL .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 129A (03) :218-224

[9] ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation [J].

Bienvenu, T ;

Poirier, K ;

Friocourt, G ;

Bahi, N ;

Beaumont, D ;

Fauchereau, F ;

Ben Jeema, L ;

Zemni, R ;

Vinet, MC ;

Francis, F ;

Couvert, P ;

Gomot, M ;

Moraine, C ;

van Bokhoven, H ;

Kalscheuer, V ;

Frints, S ;

Gecz, J ;

Ohzaki, K ;

Chaabouni, H ;

Fryns, JP ;

Desportes, V ;

Beldjord, C ;

Chelly, J .

HUMAN MOLECULAR GENETICS, 2002, 11 (08) :981-991

[10] Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation [J].

Billuart, P ;

Bienvenu, T ;

Ronce, N ;

Des Portes, V ;

Vinet, MC ;

Zemni, R ;

Roest Crollius, H ;

Carrié, A ;

Fauchereau, F ;

Cherry, M ;

Briault, S ;

Hamel, B ;

Fryns, JP ;

Beldjord, C ;

Kahn, A ;

Moraine, C ;

Chelly, J .

NATURE, 1998, 392 (6679) :923-926

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