Scientists Hone In On Genetic Culprit in Heart Birth Defects
She notes that the syndrome can also include problems with the immune system, abnormalities in the urinary tract and genitals, and even behavioral and psychiatric problems. "This seems to be a syndrome that affects a number of organ systems," Pearson tells WebMD. The recent genetic findings may "shed a lot of light on how one or more genetic defects can lead to this complex constellation of problems."
And she echoes Epstein in stating that the Tbx1 gene may hold the key to heart defects beyond DiGeorge syndrome. In particular, the family of genes related to Tbx1 appears to be implicated in Holt-Oram syndrome, which involves a defect in the upper chambers of the heart, Pearson says.
Scientists Hone In On Genetic Culprit in Heart Birth Defects
She notes that the syndrome can also include problems with the immune system, abnormalities in the urinary tract and genitals, and even behavioral and psychiatric problems. "This seems to be a syndrome that affects a number of organ systems," Pearson tells WebMD. The recent genetic findings may "shed a lot of light on how one or more genetic defects can lead to this complex constellation of problems."
And she echoes Epstein in stating that the Tbx1 gene may hold the key to heart defects beyond DiGeorge syndrome. In particular, the family of genes related to Tbx1 appears to be implicated in Holt-Oram syndrome, which involves a defect in the upper chambers of the heart, Pearson says.