title: The D1152H cystic fibrosis mutation in prenatal carrier screening, patients and prenatal diagnosis.
abstract: OBJECTIVE
  To assess the frequency of the D1152H mutation in the CFTR gene in normal individuals, in cystic fibrosis (CF) patients and in the setting of prenatal diagnosis.
  
  
  METHODS
  A database analysis of sequential screening results seen at the Sheba Medical Center, Israel, between 2001 and 2010.
  
  
  METHODS
  We retrospectively analyzed the frequency of D1152H in a large cohort of healthy individuals who were screened as part of a routine prenatal care programme, in individuals referred due to CF-related symptoms and in the setting of prenatal diagnosis.
  
  
  RESULTS
  We found one asymptomatic homozygous female and 195 D1152H carriers among 49,940 healthy individuals screened, establishing a carrier rate of 1:255 for this mutation. We detected D1152H in nine of 103 individuals referred due to CF-related symptoms. Four suffered from respiratory symptoms and five from congenital bilateral absence of the vas deferens (CBAVD). During this period D1152H was detected in three pregnancies, two of which were aborted.
  
  
  CONCLUSIONS
  The increased frequency of D1152H in individuals referred due to CF-related symptoms compared with healthy individuals included in the CF carrier screening programme (P < 0.001) clearly indicates that it is a disease-causing mutation.
authors.affiliation: The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.
authors.forename: Leah
authors.initials: L
authors.lastname: Peleg
authors.forename: Mazal
authors.initials: M
authors.lastname: Karpati
authors.forename: Silvia
authors.initials: S
authors.lastname: Bronstein
authors.forename: Michal
authors.initials: M
authors.lastname: Berkenstadt
authors.forename: Moshe
authors.initials: M
authors.lastname: Frydman
authors.forename: Hagith
authors.initials: H
authors.lastname: Yonath
authors.forename: Elon
authors.initials: E
authors.lastname: Pras
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D015331:Cohort Studies; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D007557:Israel / Q000453:epidemiology; D007585:Jews / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator