Pathology
The gene was first found during a search for the cause of short stature in women with Turner syndrome, in which there is loss of genetic material from the X chromosome, classically by loss of one entire X chromosome.
Since its discovery, the SHOX gene has been found to play a role in idiopathic short stature (short stature of unknown cause without other symptoms), Léri-Weill dyschondrosteosis, and Langer mesomelic dysplasia.
Gene dosage effects of extra copies of SHOX may be a cause of the increased stature seen in other sex chromosome aneuploidy conditions such as 47,XXX, 47,XYY, 47,XXY, 48,XXYY, etc.
Read more about this topic: Short Stature Homeobox Gene
Famous quotes containing the word pathology:
“It is often said that Poland is a country where there is anti-semitism and no Jews, which is pathology in its purest state.”
—Bronislaw Geremek (b. 1932)