A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti

• Published in: Prenatal diagnosis 2004-05, Vol.24 (5), p.384-388
• Main Authors: Steffann, Julie, Raclin, Valérie, Smahi, Asmae, Woffendin, Hayley, Munnich, Arnold, Kenwrick, Sue J., Grebille, Anne-Gaelle, Benachi, Alexandra, Dumez, Yves, Bonnefont, Jean-Paul, Hadj-Rabia, Smaïl
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Birth control; DNA Mutational Analysis - methods; DNA Primers; Female; Genetic Testing - methods; Gynecology. Andrology. Obstetrics; Hormonal contraception; Humans; IKKγ gene; incontinentia pigmenti; Incontinentia Pigmenti - diagnosis; Incontinentia Pigmenti - embryology; Incontinentia Pigmenti - genetics; Medical sciences; NEMO; Pedigree; Polymerase Chain Reaction - methods; Pregnancy; Prenatal Diagnosis
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.889

Objectives Incontinentia pigmenti (IP) is a rare X‐linked dominant genodermatosis that is usually lethal in males in the prenatal period. Largely 80% of cases are accounted for by a large‐scale deletion encompassing exons 4 to 10 of the NEMO gene. The aim of this work was to facilitate prenatal diagnosis of IP by devising a novel test for detection of the prevalent NEMO deletion. Methods We devised a sensitive and reproducible multiplex PCR test enabling simultaneous amplification of the deleted and wild‐type NEMO genes in IP female individuals. Results Combination of this DNA test, with Xq28 linkage analysis and X‐inactivation pattern study enabled us to offer an IP prenatal diagnosis in 15 of the 16 couples at a 50% risk to have an affected offspring. Conclusion A current approach to IP prenatal diagnosis is proposed on the basis of the previously mentioned molecular tools. Copyright © 2004 John Wiley & Sons, Ltd.