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The aim of the present study was to screen for the presence of alterations in the phenobarbital-responsive enhancer sequence of the UGT1A1 gene and to investigate a possible association of these alterations with GS.
The researchers said that 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 Leri-Weill syndrome, the disease could be attributed solely to a genetic mutation of the enhancer sequence.
Although in natural promoters ERE sequences are often found together with other enhancer sequences and other ways of ER transactivation (e.

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