Mutation Details for c.1392+1G>A
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cDNA Name
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c.1392+1G>A
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Exon or Intron
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intron 10
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Legacy Exon or Intron
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intron 9
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1524+1G->A
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Other Details
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The mutation was identified by direct sequencing. It was detected in a 10 month old Turkish girl, carrying the G85E mutation on the other allele. She is homozygous for 7T and 11 TG. Her eight year old sister and her six year old brother are also affected. All 3 patients have positive sweat chloride tests. The brother and our patient showed malabsorption and severe pneumonia at age of 4-6 months, the sister did not. She has very mild clinical symptoms. The mother is carrier of the G85E mutation, the father is carrier of the 1524+1G->A mutation.
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Contributors
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Aulehla-Scholz C,
Rinschen
2001-07-15
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Institute
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Institut für Klinische Genetik
Stuttgart
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Submitted Phenotype Details
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The female patient carries G85E on the other allele. She was diagnosed at 10mths, is PS and had severe pneumoniae and positive sweat chloride. The phenotype of the three affected children in that family was from mild to severe. (pers. corr. Aulehla-Scholz)
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Reference
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Aulehla-Scholz & Rinschen 2001
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