Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.

@article{Thornton1998FamilialHW,
  title={Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.},
  author={Paul S Thornton and Marta S Satin-Smith and Kevan Herold and Benjamin Glaser and Ken C Chiu and Ann Nestorowicz and M. Alan Permutt and Lynette Baker and Charles A. Stanley},
  journal={The Journal of pediatrics},
  year={1998},
  volume={132 1},
  pages={9-14}
}
We describe three families with hypoglycemia caused by familial hyperinsulinism (HI) in whom vertical transmission of the disorder occurred, suggesting autosomal dominant (AD) inheritance. We therefore examined the relationship between the apparent AD disorder and the more common autosomal recessive (AR) form of HI, which has recently been linked to the sulfonylurea receptor on chromosome 11p15.1. The clinical features of the 11 patients with AD HI were milder than those seen in 14 patients… CONTINUE READING
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