Chelly Jamel, Khelfaoui Malik, Francis Fiona, Chérif Beldjord, Bienvenu Thierry
Institut Cochin, Inserm-U567, CNRS-UMR 8104, Université Paris 5 René Descartes, Faculté de Médecine René Descartes, Paris, France.
Eur J Hum Genet. 2006 Jun;14(6):701-13. doi: 10.1038/sj.ejhg.5201595.
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.
智力迟钝（MR）被定义为总体智商低于70，并伴有适应性行为方面的功能缺陷，如日常生活技能、社交技能和沟通能力。智力迟钝影响着1%至3%的人口，由极其多样的环境、染色体和单基因原因导致，是临床医生和遗传学家如今面临的最艰巨挑战之一。对《人类孟德尔遗传在线》数据库的详细分析以及文献检索显示，与智力迟钝相关的条目超过一千条，涉及临床表型或综合征、以智力迟钝为特征的代谢或神经疾病的基因超过290个。我们估计还有更多的智力迟钝相关基因有待发现。本综述的目的是概述过去十年在确定智力迟钝的遗传原因方面取得的显著进展，并强调人类认知障碍发病机制背后新出现的生物学和细胞过程及途径。
