ABCMdb

PMID: 7686336

Meschede D, Eigel A, Horst J, Nieschlag E
Compound heterozygosity for the delta F508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral aplasia of the vas deferens.
Am J Hum Genet. 1993 Jul;53(1):292-3., [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCC7 p.Phe508Cys (1992) describe a peculiar pattern of heteroduplex formation in a case of compound heterozygosity for the AF508 and F508C mutations in the CFTR gene (cystic fibrosis transmembrane conductance regulator gene). Login to comment 16 ABCC7 p.Phe508Cys ABCC7 p.Phe508Cys ABCC7 p.Phe508Cys Apart from a Table I CFTR Gene Haplotypes in the Patient and His Parents CFTR GENE HAPLOTYPE' MUTATION OR Father of Mother of POLYMORPHISM Patient Patient Patient AF508 ........ AF508/+ AF508/+ +/+ F508C ........ +/F508C +/+ +/F508C M470C ....... +/M470V +/+ +/M470V a A plus sign (+) denotes presence of the wild-type allele. Login to comment 19 ABCC7 p.Phe508Cys Direct sequencing showed heterozygosity for the AF508 and F508C mutations and the amino acid polymorphism M470V (Kerem et al. 1990). Login to comment 23 ABCC7 p.Phe508Cys In the mother, heterozygosity for the F508C mutation and the M470V polymorphism was detected. Login to comment 24 ABCC7 p.Phe508Cys In the patient and his mother, F508C and M470V were present on the same chromosome (cis configuration), as can be deduced from the segregation pattern (table 1). Login to comment 25 ABCC7 p.Phe508Cys Compound heterozygosity for AF508 and F508C has been reported in clinically normal individuals (Kobayashi et al. 1990; Macek et al. 1992), in patients with typical CF symptoms (Kerem et al. 1990), and now, for the first time, in a case of CBAVD. Login to comment 26 ABCC7 p.Phe508Cys The basis for this wide clinical variability is unclear, as is the functional significance of the F508C mutation. Login to comment 28 ABCC7 p.Phe508Cys It cannot be excluded, however, that this mutation contributes to the clinical phenotype of CBAVD if it is inherited together with AF508 and F508C. Login to comment 29 ABCC7 p.Phe508Cys To further clarify this issue, we are currently screening a larger number of patients with congenital anomalies of the Wolffian-duct derivatives, for M470V and F508C mutations. Login to comment 35 ABCC7 p.Phe508Cys Am J Hum Genet 47:611-615 Macek M Jr, Ladanyi L, Burger J, Reis A (1992) Missense variations in the cystic fibrosis gene: heteroduplex formation in the F508C mutation. Login to comment