Molecular-clinical spectrum of the ATR-X syndrome

Since the identification of the ATRX gene (synonyms XNP, XH2) in 1995, it h as been shown to be the disease gene for numerous forms of syndromal X-link ed mental retardation [X-linked alpha thalassemia/mental retardation (ATR-X ) syndrome, Carpenter syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myer s syndrome, X-linked mental retardation with spastic paraplegia]. An attemp t is made in this article to review the clinical spectrum associated with A TRX mutations and to analyse the evidence for any genotype/ phenotype corre lation. Am. J. Med. Genet. (Semin. Med. Genet.) 97:204-212, 2000. (C) 2000 Wiley-Liss, Inc.