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  • Molecular assay reagents intended to identify mutations in the alpha thalassemia/mental retardation syndrome X-linked (ATRX) gene, located at chromosome Xq13, which takes part in the global transcriptional regulation function, modifies gene expression by affecting chromatin, and may be involved in brain development and face morphogenesis. Mutations at this locus have been identified in most patients with X-linked alpha-thalassemia, repining syndrome 1 (reno 1), Carpenter-Waziri syndrome (CWS), and alpha-thalassemia myelodysplasia syndrome (ATMDS).
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