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Not Only A Gene But Its Regulators As Well Is Crucial For Development Of Short Stature, Says Study
Not only the gene but, the sequences of genetic material on the X and Y chromosome that regulate it are also crucial for growth in children.
Professor Gudrun Rappold, the Director of the Department of Human Molecular Genetics at Heidelberg University Hospital, points out that these gene regulators determine how frequently a gene is copied, and, thus, how effective it is.
In many cases, she says, the mutation of one regulatory sequence of the SHOX gene is sufficient to give rise to the full-blown syndrome.
Publishing their results in the Journal of Medical Genetics, she and her colleagues have said that their findings may open up new possibilities for diagnosing the cause of short stature, and initiating treatment before it is too late.
According to background information in the report, the SHOX gene (short stature homeobox gene) is responsible for the normal growth of bones, and is often mutated in short-stature patients-no more than 160 cm of final height in men, and 150 cm in women.
Hormone disorders, malnutrition, chronic disease, or a genetic disorder are some of the causes of short stature. 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.
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