title: Identification of a new cystic fibrosis transmembrane regulator mutation in a severely affected patient.
abstract: By using a combination of multiplex polymerase chain reaction and allele-specific labelled probes, the oligo-ligation assay is designed to detect known cystic fibrosis transmembrane regulator mutations. This study shows that this assay may also be useful to detect new mutations. The second child of a family of Bosnic origin showed all the symptoms of intestinal and pulmonary manifestations of cystic fibrosis. No signal could be obtained for the allele-specific probe 1898+1G>A. This could be explained by a nearby localized sequence change that prevented polymerase chain reaction primers or oligonucleotide probes from binding to the target sequence. Indeed, sequence analysis revealed a new 1894G>T exchange (Glu587Stop). Both parents and the healthy brother carried this mutation. Thus, the index patient was homozygous for 1894G>T, which was inherited from both parents.
authors.affiliation: Institute of Medical Molecular Diagnostics, Berlin, Germany.
authors.forename: E
authors.initials: E
authors.lastname: Spitzer
authors.forename: D
authors.initials: D
authors.lastname: Staab
authors.forename: R
authors.initials: R
authors.lastname: Hanke
authors.forename: U
authors.initials: U
authors.lastname: Wahn
authors.forename: R
authors.initials: R
authors.lastname: Grosse
mesh_terms: D017522:Bosnia and Herzegovina; D018389:Codon, Nonsense; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005828:Genetics, Population; D006720:Homozygote; D006801:Humans; D007223:Infant; D016133:Polymerase Chain Reaction
chemical_list: C505032:CFTR protein, human; D018389:Codon, Nonsense; D019005:Cystic Fibrosis Transmembrane Conductance Regulator