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

tients reach a height up to 20 cm less than expected. Up to about 15 cm can be regained if the disease is diagnosed early enough and treated with growth hormones. The SHOX gene is involved in various other syndromes with growth disorders (Lri-Weill, Langer, Ullrich-Turner syndrome).

Genetic material from 893 persons with short stature examined

The researchers' latest studies show that not only the gene itself, but its regulators as well can be crucial for developing the disease. Regulatory sequences ensure that the respective gene is copied more or less frequently and thus is more or less effective.

The researchers in Heidelberg examined the genetic material from a total of 893 subjects. About 5 percent of the patients with idiopathic short stature and 80 percent of the patients with Lri-Weill syndrome had mutations in the segment either including or around the SHOX gene. Some patients had an intact SHOX gene but an unexpectedly high number of mutations in its enhancer sequences: for 26 percent of patients with SHOX deficiency and idiopathic short stature and for 45 percent of patients with SHOX deficiency and Lri-Weill syndrome, the disease could be attributed solely to a genetic mutation of the enhancer sequence. "The astounding thing is that this enhancer mutation is quite far away from the affected gene and yet it still leads to the exact same clinical symptoms as a mutation in the gene itself," says Professor Rappold.

Treatment with growth hormones

Genes that are responsible for growth and development are needed more or less frequently in different phases of growth. In these genes in particular, mutations in the regulatory sequences can be the decisive factor for illness. The researchers hope that their results will give them a better understanding of the causes of the disease and allow them to optimize the diagnostic possibilities for patients with SHOX gene mutations.

"Patients who suffer
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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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