Genetics and pathophysiology of mental retardation

被引：176

作者：

Chelly, Jamel ^{[1
]}

Khelfaoui, Malik ^{[1
]}

Francis, Fiona ^{[1
]}

Cherif, Beldjord ^{[1
]}

Bienvenu, Thierry ^{[1
]}

机构：

[1] Univ Paris 05, Fac Med, INSERM U 567, CNRS UMR 8104,Inst Cochin, F-75014 Paris, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2006年 / 14卷 / 06期

关键词：

mental retardation; XLMR; RhoGTPase pathways; neuronal morphogenesis and plasticity;

D O I：

10.1038/sj.ejhg.5201595

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Mental retardation (MR) is defined as an overall intelligence quotient lower than 70, associated with functional deficit in adaptive behavior, such as daily-living skills, social skills and communication. Affecting 1-3% of the population and resulting from extraordinary heterogeneous environmental, chromosomal and monogenic causes, MR represents one of the most difficult challenges faced today by clinician and geneticists. Detailed analysis of the Online Mendelian Inheritance in Man database and literature searches revealed more than a thousand entries for MR, and more than 290 genes involved in clinical phenotypes or syndromes, metabolic or neurological disorders characterized by MR. We estimate that many more MR genes remain to be identified. The purpose of this review is to provide an overview on the remarkable progress achieved over the last decade in delineating genetic causes of MR, and to highlight the emerging biological and cellular processes and pathways underlying pathogeneses of human cognitive disorders.

引用

页码：701 / 713

页数：13

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