Gibbons R J, Higgs D R
Nuffield Department of Clinical Laboratory Sciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK.
Am J Med Genet. 2000 Fall;97(3):204-12. doi: 10.1002/1096-8628(200023)97:3<204::AID-AJMG1038>3.0.CO;2-X.
Since the identification of the ATRX gene (synonyms XNP, XH2) in 1995, it has been shown to be the disease gene for numerous forms of syndromal X-linked mental retardation [X-linked alpha thalassemia/mental retardation (ATR-X) syndrome, Carpenter syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, X-linked mental retardation with spastic paraplegia]. An attempt is made in this article to review the clinical spectrum associated with ATRX mutations and to analyse the evidence for any genotype/phenotype correlation.
自1995年鉴定出ATRX基因（同义词：XNP、XH2）以来，它已被证明是多种综合征型X连锁智力迟钝疾病的致病基因[X连锁α地中海贫血/智力迟钝（ATR-X）综合征、卡彭特综合征、朱伯格-马西迪综合征、史密斯-法恩曼-迈尔斯综合征、伴有痉挛性截瘫的X连锁智力迟钝]。本文试图综述与ATRX突变相关的临床谱，并分析任何基因型/表型相关性的证据。
