Advances in high-throughput sequencing have revealed frequent alterations in genes such as MEN1 (menin-1) death domain-associated protein (DAXX), and alpha thalassemia/mental retardation syndrome X-linked (ATRX) as well as pathways involved in chromatin remodeling, mTOR (mechanistic target of rapamycin) signaling, DNA repair, and telomere maintenance. The gene discussed is ATRX; the disease is Alpha-thalassemia.