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SHOX point mutations in dyschondrosteosis

Dyschondrosteosis (DCS) has been recently ascribed to mutations of the SHOX gene on the pseudoautosomal region of the X and Y chromosomes.1 2 Most cases are accounted for by large scale deletions3-7 and only two point mutations have been hitherto identified in exon 4 (R195 X and Y199X1 2). Here, we show that point mutations in various regions of the SHOX gene also play an important role in the pathogenesis of the disease.

A total of 22 affected subjects belonging to eight families were included in the study. Inclusion criteria for affected status were short stature (2 SD below normal) with short forelimbs …