The following diseases are caused by point mutation EXCEPT

Two point mutations in the hemochromatosis gene (HFE) are considered responsible for the development of hereditary hemochromatosis (HH), an autosomal recessive iron overload disease. In contrast to the Cys282Tyr mutation, the role of the His63Asp mutation in the pathogenesis of the disease is unceain. Achondroplasia is a single gene mutation disorder caused by mutations in the FGFR3 gene on chromosome4. Two different mutations in the FGFR3 gene cause more than 99 per cent of cases of achondroplasia. It is a dominant genetic disease so only one copy of the FGFR3 gene needs to be mutated for symptoms to develop Mutations in the SERPINA1 gene cause alpha-1 antitrypsin deficiency. This gene provides instructions for making a protein called alpha-1 antitrypsin, which protects the body from a powerful enzyme called neutrophil elastase. Ref Robbins 9/e pg 169