Putting these findings in the context of other work in this field, we conclude that subjects with leprechaunism or Rabson-Mendenhall syndrome have a high probability of having a missense or nonsense insulin receptor mutation.
About 20 cases of primary receptor mutations (type A syndrome of insulin resistance, leprechaunism and Rabson-Mendenhall syndrome) and 16 cases of autoantibodies against insulin receptor (type B syndrome of insulin resistance) are described in Japan.
Putting these findings in the context of other work in this field, we conclude that subjects with leprechaunism or Rabson-Mendenhall syndrome have a high probability of having a missense or nonsense insulin receptor mutation.
Substitution of lysine for asparagine at position 15 in the alpha-subunit of the human insulin receptor. A mutation that impairs transport of receptors to the cell surface and decreases the affinity of insulin binding.