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Not only the gene itself, its abnormal regulation can also trigger short stature
Date:8/25/2009

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. 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). There are many causes, e.g. hormone disorders, malnutrition, chronic disease, or a genetic disorder. If, in addition to short stature, other symptoms such as short forearms and lower legs or other bone malformations also occur, it is considered a syndrome. However, often no exact cause can be determined and other typical features are lacking this is then known as idiopathic short stature.

SHOX gene mutation is frequently the cause of short stature

Professor Rappold's team discovered back in 2007 that in over 4 percent of children with idiopathic short stature, the trigger for the disorder was a mutation in the SHOX gene. This gene lies on the X chromosome and is responsible for growth in the epiphyseal plate, where the long bones of the arms and legs grow in length. After puberty, epiphyseal fusion takes place. When there is a mutation of the SHOX gene, pa
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Contact: Professor Gudrun A. Rappold Ph.D.
gudrun_rappold@med.uni-heidelberg.de
062-215-65059
University Hospital Heidelberg
Source:Eurekalert

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