The necessity of complete CFTR mutational analysis of an infertile couple before in vitro fertilization.
OBJECTIVE
To determine the genotype of a triplet resulted from an IVF procedure, with discordant cystic fibrosis (CF) phenotype.


METHODS
Molecular diagnosis of CF.


METHODS
Affected triplet followed at the CF Clinic Center of Children's Hospital Los Angeles was referred to Molecular Genetics Laboratory at Georgetown University Medical Center for comprehensive DNA analysis of the cystic fibrosis transmembrane regulator (CFTR) gene.


METHODS
Three affected children and the healthy parents with negative family history of CF.


METHODS
Temporal temperature gradient gel electrophoresis and direct DNA sequencing were used to detect and to identify the mutations.


RESULTS
The child with classic CF had DeltaF508 and R553X mutations. Two children with mild CF symptoms had DeltaF508 and R117C. The father carried two mutations, R553X and R117C. The mother is a carrier for DeltaF508.


CONCLUSIONS
Mutational analysis of the CFTR gene should always be recommended to the infertile couples seeking for IVF. The CFTR mutation screening would be essential if the man has congenital bilateral absence of vas deferens (CBAVD) despite the negative family history of CF. Option of complete CFTR gene analysis at a cost of about 1,500-2,000 dollars should be made available if one mutation is found in the male partner with congenital bilateral absence of vas deferens.
Department of Oncology, Molecular Genetics Laboratory, Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA. wonglj@georgetown.edu
Lee-Jun C
LJ
Wong
Ozgül M
OM
Alper
Evelyn
E
Hsu
Marlyn S
MS
Woo
Monique F
MF
Margetis
D000328:Adult; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005307:Fertilization in Vitro; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D007247:Infertility, Female / Q000235:genetics*; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D017354:Point Mutation; D011247:Pregnancy; D011272:Pregnancy, Multiple / Q000235:genetics; D014310:Triplets / Q000235:genetics
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator