J Med Genet 28:871-874 doi:10.1136/jmg.28.12.871
  • Research Article

Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.

  1. S Strautnieks,
  2. P Rutland,
  3. S Malcolm
  1. Mothercare Unit of Paediatric Genetics, Institute of Child Health, London.


      We studied DNA from 29 families with at least one member with ornithine carbamoyl transferase (OCT) deficiency and have found a mutation in the TaqI site within exon 5 of the OCT gene in a female presenting at the age of 21 months. Hybridisation with site specific oligonucleotides shows that the mutation is a C to T substitution resulting in a glutamine for arginine substitution at amino acid 109.