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Prenatal diagnosis of X‐linked hyper‐IGM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR‐mediated site directed mutagenesis
Author(s) -
Jayoussi–Assalia R.,
Etzioni A.,
Notarangelo L.D.,
BrillZamir R.,
Kasinetz L.,
Kadouri E,
GershoniBaruch R.
Publication year - 2000
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/1097-0223(200010)20:10<822::aid-pd935>3.0.co;2-k
Subject(s) - prenatal diagnosis , mutation , chorionic villus sampling , mutagenesis , gene , biology , genetics , microbiology and biotechnology , mutation testing , gene mutation , pregnancy , fetus
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. Copyright © 2000 John Wiley & Sons, Ltd.