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TY - JOUR AU - White, Marga B. AU - Amos, Jean AU - Hsu, Julie M. C. AU - Gerrard, Bernard AU - Finn, Paula AU - Dean, Michael PY - 1990 DA - 1990/04/01 TI - A frame-shift mutation in the cystic fibrosis gene JO - Nature SP - 665 EP - 667 VL - 344 IS - 6267 AB - CYSTICfibrosis (CF) is a common recessive lethal genetic disorder, affecting 1 in 1,600 Caucasians1. The disease causes defective regulation of chloride-ion transport in exocrine cells2–5. Although in all CF families the disease is linked to a locus on chromosome 7q31 (refs 6-11), there is clinical heterogeneity in the severity of the disease and the age at which it is diagnosed. CF is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene12–13. A three-nucleotide deletion (δF508) causing the loss of a phenylalanine residue in the tenth exon of the CFTR gene has been found on 70% of CF chromosomes12–14 We have now characterized a CF family in which neither parent of the affected individual carries the common mutation, and identified a two-nucleotide insertion in the CF allele of the mother. The mutation introduces a termination codon in exon 13 of the CFTR gene at residue 821, and is predicted to result in the production of a severely truncated nonfunctional protein. SN - 1476-4687 UR - https://doi.org/10.1038/344665a0 DO - 10.1038/344665a0 ID - White1990 ER -