‘Switch’ for birth defects found
Without the Moz gene, Tbx1, a gene responsible for normal heart development, did not work properly, the researchers have found. Image: cosmin4000/iStockphoto The discovery of a ‘switch’ that modifies a gene known to be essential for normal heart development could explain variations in the severity of birth defects in children with DiGeorge syndrome.Researchers from the Walter and Eliza Hall Institute made the discovery while investigating foetal development in an animal model of DiGeorge syndrome. DiGeorge syndrome affects approximately one in 4000 babies.Dr Anne Voss and Dr Tim Thomas led the study, with colleagues from the institute’s Development and Cancer division, published in the journal Developmental Cell.Dr Voss said babies with DiGeorge syndrome have a characteristic DNA mutation on chromosome 22 (22q11 – chromosome 22, long arm, band 11), but exhibit a range of mild to severe birth defects, including heart and aorta defects.“The variation in symptoms is so prominent that even identical...