title: Prenatal diagnosis of X-linked hyper-IGM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis.
abstract: We present the first report of prenatal diagnosis of X-linked hyper-IgM syndrome by PCR-mediated site directed mutagenesis (PSM) in a woman known to carry the Q220X mutation in the CD40L gene. Using the simple PSM assay, the Q220X mutation was identified by chorionic villous sampling (CVS) at 11 weeks' gestation and the pregnancy was terminated.
authors.affiliation: Institute of Human Genetics, Rambam Medical Center, Technion, Haifa, Israel.
authors.forename: R
authors.initials: R
authors.lastname: Jayoussi-Assalia
authors.forename: A
authors.initials: A
authors.lastname: Etzioni
authors.forename: L D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: R
authors.initials: R
authors.lastname: Brill-Zamir
authors.forename: L
authors.initials: L
authors.lastname: Kasinetz
authors.forename: E
authors.initials: E
authors.lastname: Kadouri
authors.forename: R
authors.initials: R
authors.lastname: Gershoni-Baruch
mesh_terms: D000328:Adult; D023201:CD40 Ligand / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D006801:Humans; D006942:Hypergammaglobulinemia / Q000175:diagnosis* / Q000235:genetics; D007075:Immunoglobulin M; D008297:Male; D016297:Mutagenesis, Site-Directed; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D017931:DNA Primers; D007075:Immunoglobulin M; D023201:CD40 Ligand