CHST14 and Ehlers-Danlos syndrome, musculocontractural type: Three homozygous mutations, a 1-bp deletion (p.Val49*), two missense mutations (p.Arg213Pro and p.Tyr293Cys), and a compound heterozygous mutation (p.Arg135Gly and p.Leu137Gln), were found in CHST14 in the three original adducted thumb-clubfoot syndrome families from Austria and Turkey as well as a consanguineous family from Japan [47].