ClinVar

In a 10.5-year-old Turkish-German girl with spondyloepiphyseal dysplasia and congenital joint dislocations (SEDCJD; 143095), born of consanguineous parents, Hermanns et al. (2008) identified homozygosity for a 776T-C transition in exon 3 of the CHST3 gene, resulting in a leu259-to-pro (L259P) substitution at a highly conserved residue. The parents were heterozygous for the mutation, and the patient had an unaffected brother. Functional analysis in cultured skin fibroblasts revealed that the L259P mutation severely impaired or abolished CHST3 function. Unger et al. (2010) restudied this patient and noted that although she had initially been diagnosed as having Larsen syndrome (see 245600), there was now clear evidence of SED with severe spinal degeneration.

In a Lebanese boy with SED and congenital joint dislocations, who was originally reported by Megarbane and Ghanem (2004) and given the diagnosis of 'chondrodysplasia with multiple dislocations,' Unger et al. (2010) identified homozygosity for the L259P mutation in the CHST3 gene.