Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene.
We describe a congenital bilateral absence of the vas deferens (CBAVD) patient with a compound heterozygosity in the cystic fibrosis transmembrane regulator (CFTR) gene for a stop mutation W1282X and a new missense mutation P499A. The P499A is interpreted as a mild mutation whose phenotypic effects, in this case limited to the development of wolffian duct derivatives, are revealed only in combination with a severe CFTR mutation.
Arduino
C
C
Servizio Universitario Convenzionato di Genetica Medica, Azienda Ospedaliera S. Giovanni Battista, Torino, Italy.
Ferrone
M
M
Brusco
A
A
Garnerone
S
S
Fontana
D
D
Rolle
L
L
Carbonara
A O
AO
D000328:Adult; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D014649:Vas Deferens / Q000002:abnormalities*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator