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The ATR-X syndrome is an X-linked disorder comprising severe psychomotor retardation, characteristic facial features, genital abnormalities, and alpha-thalassemia. We have shown that ATR-X results from diverse mutations of XH2, a member of a subgroup of the helicase superfamily that includes proteins involved in a wide range of cellular functions, including DNA recombination and repair (RAD16, RAD54, and ERCC6) and regulation of transcription (SW12/SNF2, MOT1, and brahma). The complex ATR-X phenotype suggests that XH2, when mutated, down-regulates expression of several genes, including the alpha-globin genes, indicating that it could be a global transcriptional regulator. In addition to its role in the ATR-X syndrome, XH2 may be a good candidate for other forms of X-linked mental retardation mapping to Xq13.

Original publication




Journal article



Publication Date





837 - 845


Abnormalities, Multiple, Amino Acid Sequence, Base Sequence, Brain, Chromosome Mapping, Conserved Sequence, DNA Helicases, DNA Primers, DNA Repair, Fetus, Gene Expression Regulation, Gene Library, Genetic Linkage, Humans, Intellectual Disability, Lod Score, Molecular Sequence Data, Multigene Family, Phenotype, Polymerase Chain Reaction, Sequence Deletion, Sequence Homology, Amino Acid, Syndrome, Transcription, Genetic, X Chromosome, alpha-Thalassemia