Osteodysplastic primordial dwarfism: Report of a further patient with manifestations similar to those seen in patients with types I and III

An α1 II Gly913 to Cys substitution prev

An α1 II Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis

✍ Mundlos, Stefan; Chan, Danny; McGill, Jim; Bateman, John F. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB

A heterozygous mutation in the COL2A1 gene was identified in a patient with hypochondrogenesis. The mutation was a single nucleotide transition of G3285T that resulted in an amino acid substitution of Cys for Gly9I3 in the al(I1) chain of type I1 collagen. This amino acid change disrupted the obliga