title: Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene.
abstract: BACKGROUND
  Large deletions within CFTR have been estimated to constitute 1-2% pathogenic alleles, but the occurrence could be much higher in classical cystic fibrosis (CF) patients with one mutation detectable by the routine screening/sequencing work-up. Currently, evaluation of major CFTR rearrangements is not included in the mutation analysis for the reproductive partner of a CF patient/carrier.
  
  
  METHODS
  Exon sequencing and Multiplex Ligation-dependent Amplification (MLPA) analyses were used to make a molecular diagnosis of two unrelated CF patients. Long PCR, restriction mapping, cloning, and hot start sequencing were employed to accurately annotate the rearrangement junctions.
  
  
  RESULTS
  Both patients had a heterozygous single amino acid deletion mutation identified by sequencing, and a heterozygous deletion of CFTR exons 17a and 17b detected by MLPA. Molecular characterization of the rearrangement breakpoints indicated that the two patients had an identical complex c.2988+1616_c.3367+356del3796ins62 change, flanked by a pair of perfectly inverted repeats of 32 nucleotides.
  
  
  CONCLUSIONS
  The c.2988+1616_c.3367+356del3796ins62 complex rearrangement is a recurrent mutation from patients of different ethnic backgrounds. This mutation can be detected through a simple PCR based analysis.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX77030, United States.
authors.forename: Sha
authors.initials: S
authors.lastname: Tang
authors.forename: Siby P
authors.initials: SP
authors.lastname: Moonnumakal
authors.forename: Blair
authors.initials: B
authors.lastname: Stevens
authors.forename: Ganka
authors.initials: G
authors.lastname: Douglas
authors.forename: Sally
authors.initials: S
authors.lastname: Mason
authors.forename: Eric S
authors.initials: ES
authors.lastname: Schmitt
authors.forename: Christine M
authors.initials: CM
authors.lastname: Eng
authors.forename: Marcia
authors.initials: M
authors.lastname: Katz
authors.forename: Ping
authors.initials: P
authors.lastname: Fang
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator