Insulin gene mutations as a cause of permanent neonatal diabetes.

  title={Insulin gene mutations as a cause of permanent neonatal diabetes.},
  author={Julie St\oy and Emma L. Edghill and Sarah E Flanagan and Honggang Ye and Veronica P Paz and A. D. Pluzhnikov and Jennifer E. Below and M. Geoffrey Hayes and Nancy J. Cox and Gregory M. Lipkind and Rebecca B. Lipton and Siri Atma W Greeley and Ann-Marie Patch and Sian Ellard and Donald F. Steiner and Andrew T Hattersley and Louis Philipson and Graeme I. Bell},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  volume={104 38},
We report 10 heterozygous mutations in the human insulin gene in 16 probands with neonatal diabetes. A combination of linkage and a candidate gene approach in a family with four diabetic members led to the identification of the initial INS gene mutation. The mutations are inherited in an autosomal dominant manner in this and two other small families whereas the mutations in the other 13 patients are de novo. Diabetes presented in probands at a median age of 9 weeks, usually with diabetic… CONTINUE READING
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