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Identification of a new cystic fibrosis transmembrane regulator mutation in a severely affected patient

¹ Institute of Medical Molecular Diagnostics Ltd, Berlin, and ² Christiane Herzog Centre, Chest Clinic Heckeshorn, Berlin, Germany

CORRESPONDENCE: E. Spitzer, Institute of Medical Molecular Diagnostics, Schoenstrasse 90, 13086, Berlin, Germany. Fax: 49 309209071. E-mail: labor@immdonline.com

Keywords: cystic fibrosis, cystic fibrosis transmembrane regulator gene mutation, oligo­ligation assay

Received: July 2, 2001
Accepted July 31, 2001

By using a combination of multiplex polymerase chain reaction and allele­specific labelled probes, the oligo­ligation 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 allele­specific 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.