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Prenatal diagnosis of Menkes disease

✍ Scribed by Stephen G. Kaler; Zeynep Tümer

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
42 KB
Volume
18
Category
Article
ISSN
0197-3851

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✦ Synopsis

About 90-95 per cent of the patients have a severe clinical course leading to death in early childhood. ATP7A mutations associated with MD show great variety, from cytogenetic abnormalities to partial gene deletions to single base-pair changes. As a lethal X-linked trait, an estimated one-third of new MD cases represent de novo mutations, for which prenatal detection would not be applicable. However, for families in which the disease is known to segregate, the shortcomings of presently available treatments (Tu ¨mer et al., 1996;Kaler, 1996) underscore the value of prevention. In this commentary, we summarize the current state of the art in prenatal diagnosis of this disorder, emphasizing advances made possible by knowledge of the ATP7A gene sequence.

Until recently the only possibility for prenatal diagnosis of MD was biochemical testing, either measurement of radioactive copper accumulation in cultured amniotic fluid cells or determination of total copper content in chorionic villi by neutron

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