Mutation Details for c.3873+2T>C

cDNA Name c.3873+2T>C 
Exon or Intron intron 23 
Legacy Exon or Intron intron 20 
Legacy Name 4005+2T->C 
Other Details We screened 27 pediatric CF-patients from Western Norway for CFTR mutations by SSCP followed by direct sequencing. In three unrelated patients (all with another known CF-allele) we identified the same shift in exon 20. The PCR primers were 20a and 20B. The mutation causes loss of a natural HphI restriction site. Wild type: 473 bp in three fragments: 70, 137 and 266 bp. Mutated Allele: two fragments: 70 and 403 bp. Next to delF508, this mutation is the most commonly encountered in our CF population. This Bergen mutation was also commonly occurring in Oslo, but it was not found in Copenhagen (personal communications from Kritin Eiklid and Marianne Schwartz). In Norway, DF508 constitutes only about 60% of the CF-mutations (Eiklid et al Clin Genet 1993; 44:12-14), in accordance with similar observations in Sweden (Acta Paediatr 1993:82:609). In Western Norway, delF508 is less prevalent than the Norwegian mean (around 50%, unpublished). In addition to delF508, we routinely screen our CF patients for the most frequent 16 Northern European CF mutations, including the Nordic mutution, 394delTT (Schwartz et al, Hum Genet 1994;93:157-61). The result is disappointing- we have so far only seen R117H and G551D (other than the mutation reported here). 
Contributors Boman H   1997-06-28
Institute Department of Medical Genetics, Haukeland Hospital, Norway 
Submitted Phenotype Details 4005+2T->C is one of the most commonly encountered in Norwegian CF patients; this mutation had not been seen in Denmark or in Sweden. (pers. corr. Boman) 
Reference Boman (NL#69) 

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The Database was last updated at Apr 25, 2011