Abstract
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.
Keywords
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Article info
Publication history
Accepted:
June 3,
2002
Received in revised form:
June 3,
2002
Received:
March 1,
2002
Footnotes
☆Contract grant sponsor: Ministry of Education, Science and Culture in Japan. Contract grant number: 07770607.
Identification
Copyright
© 2002 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
