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Mild CF in a ΔF508/R347H compound heterozygote woman: does the manifestation of this genotype differ in the two sexes?
Author(s) -
Kosztolányi György,
Malik Naseem,
Rutishauser Marcus
Publication year - 1996
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.1399-0004.1996.tb04338.x
Subject(s) - heterozygote advantage , compound heterozygosity , genotype , genetics , biology , medicine , allele , gene
A woman with unusually mild cystic fibrosis (CF) and normal sweat chloride levels is reported to have ΔF508 deletion on one CF chromosome and the rare mutation R347H on the other, the first known female with this mutation. Of the other eight cases with R347H mutation mentioned in the literature, all five patients whose age and sex were given in the reports were men and had congenital bilateral absence of vas deferens (CBAVD). Considering these data, it is not unrealistic to assume that R347H associates more frequently than other CF mutations with CBAVD, which would mean that the clinical significance of this mutation might differ in males and females.