Mutation Details for c.53+1005t>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.53+1005t>G
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Exon or Intron
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Other Details
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CFTR functional assays:
sweat chloride at 97 mmol/L
Intestinal current measurement performed 2017 at Hannover Medical School according to ECFS SOP:
sum values (carbachol, forskolin/IBMX/DIDS-insensitive histamine) in four biopsies: 7, -6, 11, -6 µA/cm*2 confirming CF-typical pattern with little CFTR residual function
CFTR sequencing initially revealed three SNPs (in addition to F508del), however another patient with N1303K and this mutation was discovered 3 years later, leading to identification of this mutation as causative of the phenotype
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Contributors and Institutes
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| Anna-Maria Dittrich, Burkhard Tümmler, Frauke Stanke, Christian Dopfer, Pediatric CF department, Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover Germany | - | |
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Submitted Phenotype Details
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Typical presentation with failure to thrive within first year of life, pancreatic insufficiency, chronic PsA colonization detected at age four.
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Reference
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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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