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Single gene defects causing NIDDM

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

The following gene defects have been associated with rare inherited forms of NIDDM:

  • insulin:
    • autosomal dominant
    • very rare
    • insulin produced is inactive
    • most insulin mutations do not cause diabetes

  • insulin receptor:
    • autosomal dominant or recessive
    • characterised by severe insulin resistance

  • glucokinase:
    • autosomal dominant
    • impairs insulin secretion
    • causes mild but early onset NIDDM (MODY 2)

  • HNF-1 alpha:
    • hepatocyte nuclear factor 1 alpha gene
    • autosomal dominant
    • rare & progressive early onset NIDDM (MODY 3)

  • HNF-4 alpha:
    • hepatocyte nuclear antigen 4 alpha gene
    • autosomal dominant
    • very rare & progressive early onset NIDDM (MODY 1)

  • mitochondrial leucine tRNA:
    • maternal inheritance
    • mutation at nucleotide 3243
    • impaired insulin secretion
    • account for up to 1% of all NIDDM patients
    • may be associated with deafness, MELAS and CEO


  • O'Rahilly, S. (1997). Non-insulin dependent diabetes mellitus: the gathering storm. BMJ. 314, 955-9.
  • Johns, DR. (1996). The other human genome: mitochondrial DNA and disease. Nature Medicine, 2(10), 1065-8.

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