Article
Two mutant alleles of the insulin receptor gene in a family with a genetic form of insulin resistance: a 10 base pair deletion in exon 1 and a mutation substituting serine for asparagine-462.
Human genetics - 1 Feb 1995
Cama A, Sierra M L, Kadowaki T, Kadowaki H, Quon M J, Rüdiger H W, Dreyer M, Taylor S I
Abstract excerpt
Mutations in the insulin receptor gene cause several genetic syndromes associated with extreme insulin resistance. We have studied three insulin resistant siblings with acanthosis nigricans, dental abnormalities, and acral hypertrophy. The female patient also had primary amenorrhea due to hyperandrogenism. All three patients were compound heterozygotes with two mutant alleles of the insulin receptor gene. One...
Topics
- Alleles
- Amino Acid Sequence
- Asparagine
- Base Sequence
- Exons
- Female
- Genotype
- Humans
- Hydrogen-Ion Concentration
- Insulin Resistance
- Molecular Sequence Data