Although there was no detectable splicing error in TNX mRNA, the heterozygous TNXB splice site variant c.12463+2T>C appeared to reduce the splicing efficiency at TNXB intron 42 leading to an overall moderate decrease in TNX mRNA abundance and a moderate EDS phenotype in the affected CAH patients. The gene discussed is TNXB; the disease is Ehlers-Danlos syndrome.