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Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene
Author(s) -
Arduino C.,
Ferrone M.,
Brusco A.,
Garnerone S.,
Fontana D.,
Rolle L.,
Carbonara AO
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb02677.x
Subject(s) - missense mutation , vas deferens , cystic fibrosis , mutation , cystic fibrosis transmembrane conductance regulator , compound heterozygosity , genetics , phenotype , heterozygote advantage , biology , mesonephric duct , gene , medicine , endocrinology , allele , kidney
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.