ABCMdb

PMID: 15580565

Disset A, Michot C, Harris A, Buratti E, Claustres M, Tuffery-Giraud S
A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD).
Hum Mutat. 2005 Jan;25(1):72-81., [PubMed]

Sentences

No. Mutations Sentence Comment

1 ABCC7 p.Phe508Cys We identified a novel TG12T3 allele in a congenital bilateral absence of vas deferens (CBAVD) patient who carries a [TG11T7; p.Phe508Cys; p.Met470Val] haplotype on the other chromosome. Login to comment 28 ABCC7 p.Phe508Cys In our study, we report that a second rare allele, TG12T3, is associated with a CBAVD phenotype in a patient with no other apparent mutation in the CFTR genes excepted the so-called benign variation p.Phe508Cys. Login to comment 35 ABCC7 p.Phe508Cys The patient was found to be heterozygous for several sequence variations: c.1522T>G (1655T>G) or p.Phe508Cys and c.1407A>G (1540A>G) or p.Met470Val in exon 10, and c.742+40A>G (875+40A>G) in intron 6a. Login to comment 46 ABCC7 p.Phe508Cys The numbering of the reported mutations is as follows: c.1522T4G or p.Phe508Cys (recommended nomenclature) and 1655T4G (traditional nomenclature); c.1407A4G or p.Met470Val (recommended nomenclature) and 1540A4G (traditional nomenclature); c.742+40A4G (recommended nomenclature) and 875+40A4G (traditional nomenclature); c.1209-6Tn (recommended nomenclature) for the polymorphic locus in intron 8 and IVS8-6T(n) or c.1342-6Tn (traditional nomenclature). Login to comment 233 ABCC7 p.Phe508Cys The second case is the adult with CBAVD described here, carrying a different genotype [TG12T3] +[p.Phe508Cys;TG11T7]. Login to comment