New insight on the link between a gene called SORBS2 and congenital heart disease has been published today in eLife, with findings that may help explain the cause of the disease in some patients.
Some people with congenital heart disease are missing part of the long arm of chromosome 4, otherwise known as chromosome 4q. Chromosomes are thread-like structures made up of DNA. When part of the chromosome is missing, it means that some of the genes located on that section are also lost. Previous studies have linked heart defects related to chromosome 4q deletion syndrome to a missing copy of the HAND2 gene that is found in chromosome 4 and is important for heart development. But not every patient with a heart defect is missing HAND2, which suggests other genes are likely involved as well.