Loss of chondroitin 6- O -sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

We studied two large consanguineous families from Oman with a distinct form of spondyloepiphyseal dysplasia (SED Omani type). By using a genome-wide linkage approach, we were able to map the underlying gene to a 4.5-centimorgan interval on chromosome 10q23. We sequenced candidate genes from the r…