Mutation Details for c.3469-20T>C
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cDNA Name
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c.3469-20T>C
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Exon or Intron
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intron 21
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Legacy Exon or Intron
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intron 18
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3601-20T->C
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Other Details
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The above mutation was detected by SSCP/heteroduplex analysis and characterised by direct sequencing. It has not been observed previously on over 100 non-[delta]F508 CF chromosomes.
3601-20T->C was observed in two heterozygous patients both from North India. One of the patients died in infancy from Pseudomonas pneumonia and no sweat tests were carried out on this patient. The second patient has failure to thrive and recurrent chest infections with a borderline sweat test. No other mutation has been identified yet in either patient. 3601-20T>C creates a novel Psp1406I site.
This work was supported by the British Paediatric Association
(BPA).
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Contributors
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Kabra M,
Wallace AJ,
Kabra SK,
Ghosh M,
Verma IC
1996-06-21
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Institute
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Genetic Unit,
Department of Pediatrics,
All India Institute of Medical Sciences,
New Delhi, India.
Regional Molecular Genetics Lab,
St Mary's Hospital,
Manchester, UK.
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Submitted Phenotype Details
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The mutation was found in a 2-year old male patient diagnosed at 1 year of age, carrying an unknown other mutation, PI, with severe lung disease, sweat chloride 89mM/l, with frequent chest infections (pers. corr. Kabra)
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Reference
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Kabra et al. (NL#69)
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