Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement.
Carrier detection for 12 women and prenatal diagnosis for six fetuses in Japanese families with a patient with Menkes disease (MNK) were performed by gene analysis and/or measurement of the copper concentration in cultured cells. Six out of eight mothers of MNK patients were carriers while two (25%) were not carriers. Two unrelated patients showed the same mutation (R986X): one patient's mother was a carrier while the other was not. One male and three female fetuses did not have the same mutant allele as the respective MNK proband and have been healthy since birth. One female fetus had the same mutant allele as her affected brother. Gene analysis is very useful and reliable, although such examination is only indicated in families in which a mutation has been identified. In one family in which a mutation in ATP7A was not found, cultured amniocytes from a male fetus had a high copper concentration. Thus after his birth, the biochemical findings confirmed the presence of MNK and early treatment was started. As his early treatment with parenteral copper-histidine prevented the neurological disorders effectively, prenatal diagnosis is very important.
Gu
Yan-hong
YH
Department of Pediatrics, School of Medicine, Teikyo University, 2-11-1 Kaga, Itabashi-ku, Tokyo 173-8606, Japan.
Kodama
Hiroko
H
Sato
Emi
E
Mochizuki
Daishi
D
Yanagawa
Yukishige
Y
Takayanagi
Masaki
M
Sato
Kodo
K
Ogawa
Atsushi
A
Ushijima
Hiroshi
H
Lee
Cheng-Chun
CC
D000649:Amniocentesis; D000650:Amnion / Q000737:chemistry; D002478:Cells, Cultured; D002823:Chorion / Q000737:chemistry; D015193:Chorionic Villi Sampling; D003300:Copper / Q000032:analysis; D004252:DNA Mutational Analysis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005347:Fibroblasts / Q000737:chemistry; D006801:Humans; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
D003300:Copper