Mutation Details for c.(?_744)_(1584_?)dup
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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.(?_744)_(1584_?)dup
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Exon or Intron
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exon 7 - exon 11
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Legacy Exon or Intron
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exon 6b - exon 10
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Dup ex 6b-10 (gIVS6a+415_IVS10+2987Dup26817bp)
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Other Details
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The duplication would cause an out-of-frame addition if 8 amino acids after codon E528 of Exon 10, followed by a TGA Stop codon. The result is a truncated protein lacking terminal NBD1 and beyond.
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Contributors
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Hantash F.M, Redman J.B., McGinniss M.J., Sun W., Strom C.M.
2005-08-31
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Institute
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Quest Diagnostics Nichols Institute
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Submitted Phenotype Details
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The patient is a 19 year old, Caucasian female with a diagnosis of cystic fibrosis. She was born with meconium ileus and has an elevated sweat chloride test of 110, pulmonary disease and liver cirrhosis. She had a similarly affected sister who is deceased. Previous mutation testing had revealed the heterozygous presence of deltaF508 that was inherited from her mother. DNA Sequencing did not identify second mutation. Analysis by SQF PCR of fragments representing the promoter and all CFTR exons identified a tandem duplication of exons 6b-10. DNA Sequencing verified the presence of the duplication by detecting a fusion of IVS10 to IVS6a.
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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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