title: 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: Danish Centre for Human Genome Research, John F. Kennedy Institute, Glostrup.
authors: Z
authors: Z
authors: Tümer
authors: T
authors: T
authors: Tønnesen
authors: J
authors: J
authors: Böhmann
authors: W
authors: W
authors: Marg
authors: N
authors: N
authors: Horn
mesh_terms: D000028:Abortion, Induced; D001692:Biological Transport; D002478:Cells, Cultured; D015193:Chorionic Villi Sampling; D003001:Cloning, Molecular; D003300:Copper / Q000378:metabolism; D004252:DNA Mutational Analysis; D005189:False Positive Reactions; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D011237:Predictive Value of Tests; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D017384:Sequence Deletion
chemical_list: D003300:Copper