Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT)

Genomics. 1991 May;10(1):266-9. doi: 10.1016/0888-7543(91)90510-l.


We have identified three new frameshift mutations in the CFTR gene in patients with cystic fibrosis (CF). The first one involves the deletion of an adenine nucleotide in exon 4 in an African-American patient (CF444delA), the second involves the insertion of a cytosine nucleotide in exon 13 in an Italian patient (CF2522insC), and the third results from the deletion of a thymidine nucleotide in exon 19 in a Soviet patient (CF3821delT). Each mutation is predicted to result in premature termination of the CFTR protein.

Publication types

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

MeSH terms

  • Adult
  • Africa / ethnology
  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Child, Preschool
  • Cystic Fibrosis / ethnology
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA
  • Exons
  • Frameshift Mutation*
  • Humans
  • Italy / ethnology
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • USSR / ethnology
  • United States


  • CFTR protein, human
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA

Associated data

  • GENBANK/M65196
  • GENBANK/M65197
  • GENBANK/M65198
  • GENBANK/M65277
  • GENBANK/M65278
  • GENBANK/M65279
  • GENBANK/M65280
  • GENBANK/M65281
  • GENBANK/M65282
  • GENBANK/M65283