title: Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.
abstract: Menkes disease (MD) is an X-linked multisystemic lethal disorder of copper metabolism dominated by neurodegenerative symptoms and connective tissue disturbances. MD results from mutations in the ATP7A gene, which encodes a membrane-bound copper transporting P-type ATPase located in the trans-Golgi network. In this study we describe screening of 383 unrelated patients affected with Menkes disease for gross deletions in ATP7A gene and finding of 57 patients. The present data suggests that gross deletion of ATP7A is the disease-causing mutation in 14.9% of the Menkes disease patients. Except for a few cases, gross gene deletions result in the classical form of Menkes disease with death in early childhood.
authors.affiliation: Wilhelm Johannsen Center for Functional Genome Research, Department of Medical Genetics, IMBG, The Panum Institute, University of Copenhagen, Denmark. zeynep@imbg.ku.dk
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
authors.forename: Lisbeth
authors.initials: L
authors.lastname: Birk Møller
authors.forename: Nina
authors.initials: N
authors.lastname: Horn
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D000073840:Copper-Transporting ATPases; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D017353:Gene Deletion; D005820:Genetic Testing; D006801:Humans; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis / Q000235:genetics*; D011993:Recombinant Fusion Proteins / Q000235:genetics*
chemical_list: D027682:Cation Transport Proteins; D018076:DNA, Complementary; D011993:Recombinant Fusion Proteins; D004247:DNA; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases