Mutation Details for c.-1019g>G
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.-1019g>G
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Exon or Intron
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Other Details
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In August 21, Hannover's CF center was contacted by Dr. Raraigh who had identified another child of romanian descent with a typical clinical CF presentationi and the submitted mutation, making this mutation likely disease causing.
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Contributors and Institutes
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error reading database
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Submitted Phenotype Details
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Index patient was diagnosed in Romania, of caucasian descent at age of two months due to failure to thrive and fatty stools via sweat testing. Genetics were performed via ECFS and revealed four hitherto unknown variants in addition to F508del in trans. Apart from the entered mutation, the additional mutations were:
c.1210-1638C>T; c.54-4458_54-445delAAC; c.3717+4941G>T. Child transferred to Hannover Medical University's CF center at age four years and has been cared for there since. Equivocal diagnosis was confirmed via sweat testing (chloride at 99 mmol/L, p-elastase <15µg/g (nv >200) and intestinal current measurement, providing evidence for classic CF with little residual function. Second and third throat swab yielded MRSA which was eradicated within the following year and Pseudomonas aeruginosa which remained chronic in spite of aggressive treatment. Lung functions show a degree of compromise above that seen in the larger Hannover cohort (spirometry FEV1-values 75-85%, N2LCI2.5 at 8-10 points, radiological CN-Score at age 6 5 points).
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Reference
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n/a
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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