Researchers in Heidelberg have now discovered that sequences of
genetic material on the X and Y chromosome that regulates the
gene responsible for short stature and is 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. Professor
Gudrun Rappold, Director of the Department of Human Molecular
Genetics at Heidelberg University Hospital and her team of
researchers have published their results in the Journal of
Medical Genetics. These results could open up new possibilities
for diagnosing the cause of short stature and initiating
treatment before it is too late. The so-called SHOX gene (short
stature homeobox gene) is responsible for the normal growth of
bones and is often mutated in short-stature patients. Short
stature is considered when final height of an individual is no
more than 160 cm (men) or 150 cm (women)