Molecular-clinical spectrum of the ATR-X syndrome

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 α 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. Am. J. Med. Genet. (Semin. Med. Genet.) 97:204–212, 2000. 2000 Wiley-Liss, Inc. The ATRX gene has been shown to be the disease gene for numerous forms of syndromal X-linked mental retardation.