Achondroplasia.pptVIP

Achondroplasia Disease most associated with human dwarfism Occurs in 1 / 15,000 – 17,000 people Caused by a missense mutation History Obvious phenotype – documented throughout history - Ancient Egyptian artwork - Diego Velazquez – series of dwarf paintings in the 1600s History Cont. Exhibited in circus shows, especially in the late 1800s – mid 1900s Came to be known as “circus freaks” The Cause – Missense Mutation Achondroplasia (ACH) is caused by a missense mutation in FGFR3 (fibroblast growth factor receptor 3