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Background  Mutational combinations of the  cystic fibrosis transmembrane conductance regulator ,  CFTR , gene have different phenotypic manifestations at the molecular level with varying clinical consequences for individuals possessing such mutations. Reporting  cystic fibrosis transmembrane conductance regulator  mutations is important in understanding the genotype-phenotype correlations and associated clinical presentations in patients with cystic fibrosis. Understanding the effects of mutations is critical in developing appropriate treatments for individuals affected with cystic fibrosis, non-classic cystic fibrosis, or cystic fibrosis transmembrane conductance regulator-related disorders. This is the first report of related individuals possessing the R248G missense  cystic fibrosis transmembrane conductance regulator  mutation and we present their associated clinical histories.    Case presentation  All three patients are of Spanish descent. Deoxyribonucleic acid analysis revealed that all three siblings possessed a novel c.742A>G mutation, resulting in a p.Arg248Gly (R248G) amino acid change in exon 6  in trans  with the known N1303K mutant allele. Case 1 patient is a 39-year-old infertile man presenting with congenital unilateral absence of the vas deferens and recurrent episodes of epigastric pain. Case 2 patient is a 32-year-old woman presenting with periods of infertility, two previous spontaneous abortions, recurrent epigastric pain, and recurrent pancreatitis. Case 3 patient is a 29-year-old woman presenting with recurrent pancreatitis and epigastric pain.    Conclusions  We report the genotype-phenotype correlations and clinical manifestations of a novel R248G  cystic fibrosis transmembrane conductance regulator  mutation: congenital unilateral absence of the vas deferens in males, reduced female fertility, and recurrent acute pancreatitis. In addition, we discuss the possible functional consequences of the mutations at the molecular level.    Electronic supplementary material  The online version of this article (doi:10.1186/s13256-016-1181-3) contains supplementary material, which is available to authorized users.

journal of medical case reports

R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series