Abstract
Mutations or deletions affecting production of the short stature homeobox-containing gene (SHOX) are found in subjects ranging from isolated short stature (ISS) to Léri-Weill (dyschondrosteosis), and Langer syndromes. Our sample was made of 42 unrelated probands in charge of the Department of Medical Genetics (GTH and 1stFM, Charles University in Prague).
Twelve of them were diagnosed as patients with dyschondrosteosis and 30 of them as ISS. All probands were analysed using the MLPA kit P018 that covers PAR1 pseudoautosomal region (including SHOX gene) and neighbouring X specific sequences.
Overall, ten unique PAR1 rearrangements were detected, eight in the group with dyschondrosteosis (73%), and two in the ISS group (7%). As for the dyschondrosteosis group, seven deletions were indicated as casual what was not the case of found duplication outside the SHOX gene.
In the ISS group, one casual deletion spanning SHOX gene, and one duplication outside the SHOX gene, with ambiguous effect, was observed