Short Stature: Both A Specific Gene, And Its Abnormal Regulation, Can Trigger The Condition, Heidelberg University Hospital Study
Published: Aug 26, 2009
ScienceDaily (Aug. 25, 2009) — A specific gene is particularly frequently involved in the development of short stature. Researchers in Heidelberg have now discovered that sequences of genetic material on the X and Y chromosome that regulate this gene are also crucial for growth in children. These gene regulators determine how frequently a gene is copied, thus how effective it is. In many cases, the mutation of one regulatory sequence of the SHOX gene is sufficient to give rise to the full-blown syndrome.