Genetics
CHARGE syndrome was formerly referred to as CHARGE association, which indicates a non-random pattern of congenital anomalies that occurs together more frequently than one would expect on the basis of chance. Very few people with CHARGE will have 100% of its known features. In 2004, mutations on the CHD7 gene (located on Chromosome 8) were found in 10 of 17 patients in a study conducted in the Netherlands, making CHARGE an official "syndrome". A further study in the US of 110 individuals with CHARGE syndrome showed that 60% of those tested had a mutation on the CHD7 gene.
CHD7 is a member of the chromodomain helicase DNA-binding (CHD) protein family that plays a role in transcription regulation by chromatin remodeling.
Most recently, a review of 379 published cases of clinically diagnosed cases of CHARGE syndrome in which CHD7 mutation testing was undertaken found that 67% of cases were due to CHD7 mutation.
Read more about this topic: CHARGE Syndrome