Identification of four novel mutations in classical menkes disease and successful prenatal DNA diagnosis

Molecular Genetics and Metabolism

Volumn 73, Issue 1, 2001, Pages 86-90

  Hahn, Sihoun ^a   Cho, Kyounam ^a   Ryu, Kyunghwa ^a   Kim, Jongsoo ^a   Pai, Kisoo ^a   Kim, Moonkyu ^a   Park, Hongjoon ^a   Yoo, Ookjoon ^b  

^a Ajou University School of Medicine   (South Korea)

^b Korea Advanced Institute of Science and Technology (KAIST)   (South Korea)

Author keywords

ATP7A gene; Menkes disease; Mutations; Polymorphisms; Prenatal diagnosis

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ARGININE; ASPARAGINE; COPPER; GENE PRODUCT; GLYCINE; LEUCINE; PROTEIN MENKES; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; COPPER METABOLISM; DISEASE ASSOCIATION; ETHNIC DIFFERENCE; EXON; GENE MUTATION; HUMAN; MALABSORPTION; MALE; MENKES SYNDROME; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; SPLICEOSOME; X CHROMOSOME RECESSIVE INHERITANCE;

EID: 0035718849     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3169     Document Type: Article

References (17)

1. A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebellar degeneration
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3. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase
4. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein
5. Isolation of a partial candidate gene for Menkes disease by positional cloning
6. Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: A novel mechanism of regulated trafficking
7. Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network
8. Diverse mutations in patients with Menkes disease often lead to exon skipping
9. Identification of point mutations in 41 unrelated patients affected with Menkes disease
10. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
11. Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse
12. A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome
13. Identification of the three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease
14. Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population
15. A routine method for the establishment of permanent growing lymphoblastoid cell lines
16. First trimester prenatal diagnosis of Menkes disease by DNA analysis
17. Similar splice-site mutations of the ATP7A gene lead to different phenotypes: Classical menkes disease or Occipital horn syndrome