A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti.
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.
Steffann
Julie
J
Department of Genetics, Hôpital Necker-Enfants Malades, Paris, France.
Raclin
Valérie
V
Smahi
Asmae
A
Woffendin
Hayley
H
Munnich
Arnold
A
Kenwrick
Sue J
SJ
Grebille
Anne-Gaelle
AG
Benachi
Alexandra
A
Dumez
Yves
Y
Bonnefont
Jean-Paul
JP
Hadj-Rabia
Smaïl
S
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
D017931:DNA Primers