Alpha-thalassemia/mental retardation syndrome, x-linked
What gene change causes alpha-thalassemia X-linked intellectual disability syndrome?
Alpha-thalassemia X-linked intellectual disability syndrome is caused by changes in the ATRX gene. This gene is thought to be important in regulating the way other genes function. Changes in ATRX are thought to cause problems with the functioning of genes essential to normal neurologic and anatomic development as well as genes that are essential for hemoglobin production. Problems with the functioning of these genes results in the physical and developmental symptoms seen in people with this condition.
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Why does ATRX cause alpha-thalassemia X-linked intellectual disability syndrome?
Changes, or mutations, in the ATRX gene cause alpha-thalassemia X-linked intellectual disability syndrome. Genes are instructions for the production of proteins. Proteins do the "work" of making our bodies develop properly. When there is a change in a gene, its protein product may not work properly. The protein coded for by the ATRX gene, called ATRX protein, appears to work as a regulator of other genes in the cell. When there is a mutation in the ATRX gene, it is as if there is a spelling error in the gene's instructions for creating the ATRX protein, which results in an abnormal protein product. The abnormal ATRX protein then incorrectly regulates genes important in development of the brain, nervous system, face, genitalia, other body parts, resulting in abnormal development of these features in people with ATRX syndrome. The abnormal ATRX protein also causes decreased activity of the genes that produce hemoglobin, resulting in anemia (deficiency of red blood cells), in people with ATRX syndrome.