title: A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  A current approach to IP prenatal diagnosis is proposed on the basis of the previously mentioned molecular tools.
authors.affiliation: Department of Genetics, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Julie
authors.initials: J
authors.lastname: Steffann
authors.forename: Valérie
authors.initials: V
authors.lastname: Raclin
authors.forename: Asmae
authors.initials: A
authors.lastname: Smahi
authors.forename: Hayley
authors.initials: H
authors.lastname: Woffendin
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Sue J
authors.initials: SJ
authors.lastname: Kenwrick
authors.forename: Anne-Gaelle
authors.initials: AG
authors.lastname: Grebille
authors.forename: Alexandra
authors.initials: A
authors.lastname: Benachi
authors.forename: Yves
authors.initials: Y
authors.lastname: Dumez
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Bonnefont
authors.forename: Smaïl
authors.initials: S
authors.lastname: Hadj-Rabia
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D017931:DNA Primers; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007184:Incontinentia Pigmenti / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D017931:DNA Primers