Mild CF in a ΔF508/R347H compound heterozygote woman: Does the manifestation of this genotype differ in the two sexes?

G. Kosztolányi, Naseem Malik, Marcus Rutishauser

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)103-105
Number of pages3
JournalClinical Genetics
Volume49
Issue number2
Publication statusPublished - Feb 1996

Fingerprint

Heterozygote
Cystic Fibrosis
Genotype
Mutation
Sweat
Chlorides
Chromosomes
Congenital bilateral aplasia of vas deferens

Keywords

  • Clinical manifestation
  • Cystic fibrosis
  • Genotype/phenotype correlation
  • Rare mutations

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Mild CF in a ΔF508/R347H compound heterozygote woman : Does the manifestation of this genotype differ in the two sexes? / Kosztolányi, G.; Malik, Naseem; Rutishauser, Marcus.

In: Clinical Genetics, Vol. 49, No. 2, 02.1996, p. 103-105.

Research output: Contribution to journalArticle

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