Article
Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism.
Human mutation - 1 Jan 1995
Hone J, Accili D, Psiachou H, Alghband-Zadeh J, Mitton S, Wertheimer E, Sinclair L, Taylor S I
Abstract excerpt
Mutations in the insulin receptor gene can cause genetic syndromes associated with extreme insulin resistance. We have investigated a patient with leprechaunism (leprechaun/Qatar-1) born of a consanguineous marriage. Postnatally, the proband had episodes of severe hypoglycemia and hyperinsulinernia, with blood glucose levels ranging from 0.9 to 9.9 mmol/L. The C peptide concentration with 1880 nmol/L, and the...
Topics
- Alleles
- Blood Glucose
- C-Peptide
- Chromosome Mapping
- DNA Mutational Analysis
- Female
- Humans
- Hypoglycemia
- Infant
- Molecular Sequence Data
- Qatar
- Receptor, Insulin