ABCMdb

PMID: 15744829

Schrijver I, Karnsakul W, Limwongse C, Ramalingam S, Sankaran R, Gardner P, Moss R
Novel contributions to the Asian CFTR mutation spectrum: Genotype and phenotype in Thai patients with cystic fibrosis.
Am J Med Genet A. 2005 Feb 15;133A(1):103-5., 2005-02-15 [PubMed]

Sentences

No. Mutations Sentence Comment

19 ABCC7 p.Arg117His It was described in combination with the p. R117H mutation in a pancreatic sufficient patient from Southern France with mild CF manifestations, which included mild respiratory symptoms and congenital bilateral absence of the vas deferens (CBAVD). Login to comment 41 ABCC7 p.Trp202* DNA analysis revealed homozygosity for a nonsense mutation in exon 6a (c. 738G > A, p. W202X), which was recently submitted to the Cystic Fibrosis Mutation Database, where it was reported in a compound heterozygous patient. Login to comment 43 ABCC7 p.Trp202* Interestingly, the identified premature stop codon (p. W202X) in Patient 3 was present in homozygous form. Login to comment 65 ABCC7 p.Trp202* ABCC7 p.Trp202* ABCC7 p.Ala1025Asp TABLE I. Summary of Patient Genotypes and Phenotypes Patient 1 Patient 2 Patient 3 Genotype 4330delTG/3206 C > A, A1025D 405 þ 1G > A/1001 þ 3A > T 738G > A, W202X/738G > A, W202X Presenting features Hyponatremic hypochloremic metabolic alkalosis at 4 months FTT, pneumonia, hyponatremic hypochloremic metabolic alkalosis at 4 months FTT, pneumonia, hyponatremic hypochloremic metabolic alkalosis at 4 months Sweat chloride QPIT: 62 meq/L QPIT: 60 meq/L QPIT test not done due to acute illness Pancreatic insufficiency No Yes Yes Pulmonary symptoms No major symptoms at 4 months Respiratory infections Respiratory failure and sepsis. Login to comment