An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia

Hum Genet. 1996 Aug;98(2):182-4. doi: 10.1007/s004390050186.


Direct DNA sequencing of the steroid 21-hydroxylase gene (CYP21) revealed two novel mutations in two patients with severe congenital adrenal hyperplasia. The nonsense mutation Trp23Stop (TGG --> TGA) was found in a woman with the simple virilizing form of the disease. She was a compound heterozygote, with the previously described Ile173Asn mutation on her other allele. A boy, who developed salt-wasting in the neonatal period, carried an allele with a novel mutation of the canonical splice acceptor site in intron 1 (AG --> GG). He was also a compound heterozygote, with the well-known splice mutation in intron 2 on his other allele.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenal Hyperplasia, Congenital / enzymology
  • Adrenal Hyperplasia, Congenital / genetics*
  • Adult
  • Base Sequence
  • Codon, Nonsense / genetics
  • DNA / genetics
  • Female
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Introns
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Point Mutation
  • Polymerase Chain Reaction
  • RNA Splicing / genetics
  • Steroid 21-Hydroxylase / genetics*


  • Codon, Nonsense
  • DNA
  • Steroid 21-Hydroxylase