Mutation Details for c.2083_2084insG

cDNA Name c.2083_2084insG 
Protein Name p.Glu695GlyfsX35 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2215insG 
Other Details Cystic fibrosis (CF) is an autosomal recessive disorder that is rarely found in Asians. Only four cases of CF from four different families have been reported in Taiwan. We report two cases of CF involving two teenage siblings. Both presented with repeated airway infections, poor weight gain, clubbing of the fingers, hypoxemia, and obstructive ventilatory impairment. Multiple focal bronchiectases and emphysema were demonstrated on high-resolution computed tomography. Sweat chloride concentrations, as measured using the modified sweat chloride test in a closed space with a heater, were 327 mmol/L and 276 mmol/L, respectively. To confirm the CF diagnosis, DNA mutation analysis was performed. All 27 exons of the CF transmembrane conductance regulator (TR) gene and their flanking intron sequences were screened for nucleotide sequence alterations, and the mutations were then identified by direct DNA sequence analysis. Both siblings carried 1898+5G-->T; a mutation previously identified in Taiwan. In addition, the mutation analysis identified a new single-base-insertion mutation in exon 13 on the second CFTR allele of these patients. This mutation, named 2215insG, is expected to cause a significant disruption of CFTR function. The 1898+5G-->T/2215insG genotype is thus consistent with the CF diagnosis. A new missense mutation, S895N, in exon 15 of the CFTR gene, which cosegregated with 2215insG, was also identified in both of these patients. J Formos Med Assoc 2000 Jul;99(7):564-7 
Contributors Wu C L, Shu S G, Zielenski J, Chiang C D, Tsui L C   2000-07-01
Institute Department of Internal Medicine Taichung Veterans General Hospital, Taiwan Department of Genetics Hospital for Sick Children, Toronto, Canada 
Submitted Phenotype Details  
Reference Wu et al. 2000 

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  • Wu CL, Shu SG, Zielenski J, Chiang CD, Tsui LC   Novel cystic fibrosis mutation (2215insG) in two adolescent Taiwanese siblings.   2000 007;99(7):564-7

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The Database was last updated at Apr 25, 2011