Mutation Details for c.168delA

cDNA Name c.168delA 
Protein Name p.Glu56AspfsX35 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name 300delA 
Other Details This mutatin, in exon 3 of the CFTR gene, was detected by direct DNA sequencing and is a single base deletion of a thymine at position 300 of the CFTR gene. This results in a frameshift which leads to a chain termination codon several codons downstream. The mutation was seen in a 6 year old boy whose other CF chromosome carries the [delta]F508 mutation, which has been shown to be maternal. The patient's DNA sample was sent to us for detailed mutation analysis by Scott Higgins of Birmingham Maternity Hospital, the inital analysis [delta]F508 having been performed by Nicky Wolstenholme. Clinical details of the affected boy are awaited. Although we have only seen this mutation once so far, we believe that the disruption of the reading frame, resulting in the production of a chain termination codon is suggestive of a CF mutation. 
Contributors Malone G, Schwarz M, Super M   1992-04-06
Institute Royal Manchester Children's Hospital Pendlebury, UK 
Submitted Phenotype Details 3 patients: -one patient(male, born in 1986)was diagnosed at 2-3 years of age with CF. At the time of genetic analysis he was PI, had mild pulmonary disease and sweat chloride over 100 mmol/l. He had recurrent rectal prolapse. -one patient (male, born in 1987, at the time of analysis, was PI and had meconium ileus. -another male patient. DelF508 was found on the other allele in all 3 patients. (pers. corr. Schwarz) 
Reference Malone et al. (NL#44) 

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The Database was last updated at Apr 25, 2011