Mutation Details for c.(?_2620)_(3468_?)del
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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.(?_2620)_(3468_?)del
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Exon or Intron
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exon 16 - exon 21
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Legacy Exon or Intron
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exon 14b - exon 18
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CFTRdele14b-18
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Other Details
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This patient also carried the Y1092X CF mutation in exon 17b. Exons 14b through 18 are deleted resulting in an inframe deletion of 238 amino acids, which make up the second membrane spanning domain. The size of this deletion is between 11kb and 34kb. His sweat Cl- level was 102. He was diagnosed at birth when he presented with meconium ileus. He required a right upper lobectomy at 10 years of age, followed by a total right pneumonactomy. As a young teenager he developed hepatic cirrhosis with portal hypertension, hyperspenism and coagulopathy. He had several episodes of bleeding esophageal varices treated with sclerotherapy. At age 19 he had a gastrostomy placed for enteral feeding. He developed CF related diabetes at age 21 requiring treatment with insulin. As an older teenager he began to have hemoptysis, at age 20 he began to have episodes of massive heoptysis. He was found to have a right bronchopleural fistula which was treated with gluc-ing procedure. However, hemoptysis continued and he ultimately underwent multiple bronchial artery embolizations. During the final years of his life he was oxygen dependent and had cor pulmonale with carbon dioxide retention. He ultimately died of respiratory failure at age 26 1/2. He had severe CF.
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Contributors
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Shrimpton A E,
Borowitz D
1996-08-28
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Institute
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SUNY Health Science Center,
Syracuse, New York.
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Submitted Phenotype Details
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Reference
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Shrimpton et al. (NL#69)
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