First trimester prenatal diagnosis of Menkes disease by DNA analysis.

Abstract

Menkes disease is an X linked recessive disorder of copper metabolism characterised by neurological symptoms and connective tissue manifestations. The defective gene in Menkes disease has recently been isolated and the gene product is predicted to be a copper transporting ATPase. The diagnosis of Menkes disease has hitherto been performed by biochemical analysis, based on intracellular accumulation of copper. Cloning the gene opened up the possibility of establishing precise and reliable carrier and prenatal diagnosis by defining the molecular defect. In this report we describe the partial deletion of the Menkes gene in a patient who had inherited the mutation from his phenotypically normal mother. This information enabled us to perform prenatal diagnosis by direct mutation analysis of the mother's sixth pregnancy and we detected the same deletion, indicating that the male fetus was affected. This first prenatal diagnosis of Menkes disease by direct mutation analysis shows some advantages of DNA analysis compared to biochemical diagnosis.

• Authors: Z Tümer, T Tønnesen, J Böhmann, W Marg, N Horn
• Journal: Journal of medical genetics (J Med Genet) Vol. 31 Issue 8 Pg. 615-7 (Aug 1994) ISSN: 0022-2593 [Print] England
• PMID: 7815418 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Copper

Topics

• Abortion, Induced
• Biological Transport
• Cells, Cultured
• Chorionic Villi Sampling
• Cloning, Molecular
• Copper (metabolism)
• DNA Mutational Analysis
• False Positive Reactions
• Fatal Outcome
• Female
• Fetal Diseases (diagnosis, genetics)
• Fibroblasts (metabolism)
• Humans
• Infant, Newborn
• Male
• Menkes Kinky Hair Syndrome (diagnosis, genetics)
• Pedigree
• Predictive Value of Tests
• Pregnancy
• Pregnancy Trimester, First
• Sequence Deletion