Similar splice-site mutations of the ATP7a gene lead to different phenotypes: Classical Menkes disease or occipital horn syndrome

American Journal of Human Genetics

Volumn 66, Issue 4, 2000, Pages 1211-1220

  Møller, Lisbeth Birk ^a   Tümer, Zeynep ^a,b   Lund, Connie ^a   Petersen, Carsten ^c   Cole, Trevor ^d   Hanusch, Ralf ^e   Seidel, Jürg ^f   Jensen, Lars Riff ^b   Horn, Nina ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^e Children's Clinic   (Germany)

^f FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ADULT; ARTICLE; CHILD; CONTROLLED STUDY; EXON; GENE AMPLIFICATION; HUMAN; HUMAN TISSUE; MALE; MENKES SYNDROME; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0000241356     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302857     Document Type: Article

References (34)

1. Bouaboula M, Legoux P, Pességué B, Delpech B, Dumont X, Piechaczyk M, Casellas P, et al (1992) Standardization of mRNA titration using a polymerase chain reaction method involving co-amplification with a multispecific internal control. J Biol Chem 267:21830-21838
2. Das S, Levinson B, Whitney S, Vulpe C, Packman S, Gitschier J (1994) Diverse mutations in patients with Menkes disease often lead to exon skipping. Am J Hum Genet 55:883-889
3. Das S, Levinson B, Vulpe C, Whitney S, Gitschier J, Packman S (1995) Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am J Hum Genet 56:570-576
4. DiDonato M, Sarkar B (1997) Copper transport and its alterations in Menkes and Wilson disease. Biochim Biophys Acta 1360:3-16
5. Dierick HA, Adam AN, Escara-Wilke JF, Glover TW (1997) Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network. Hum Mol Genet 6:409-416
6. Dierick HA, Ambrosini L, Spencer J, Glover TW, Mercer JFB (1995) Molecular structure of the Menkes disease gene (ATP7A). Genomics 28:462-469
7. Francis MJ, Jones EE, Levy ER, Ponnambalam S, Chelly J, Monaco AP (1998) A Golgi localization signal identified in the Menkes recombinant protein. Hum Mol Genet 7: 1245-1252
8. Grimberg J, Nawoschik S, Belluscio L, McKee R, Turck A, Eisenberg A (1989) A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 17:8390
9. Hamalainen ER, Kuiva Niemie H, Tromp G, Pihla Janimen T, Kimppainen R, Kivirikko KI (1996) Expression of mRNAs for lysyl oxidase and type III procollagen in cultured fibroblast from patients with Menkes and occipital horn syndrome as determined by quantitative polymerase chain reaction. Arch Biochem Biophys 328:101-106
10. Henco K, Heibey M (1990) Quantitative PCR: the determination of template copy numbers by temperature gradi ent gel electrophoresis (TGGE). Nucleic Acids Res 18: 6733-6734
11. Horton RM (1993) In vitro recombination and mutagenesis of DNA: SOEing together tailor-made genes. In: White BA (ed) PCR protocols: current methods and applications, pp 251-261
12. Kaler SG, Buist NRM, Holmes CS, Goldstein DS, Miller RC, Gahl WA (1995) Early copper therapy in classic Menkes disease patients with a novel splicing mutation. Ann Neurol 38:921-928
13. Kaler SG, Das S, Levinson B, Goldstein DS, Holmes CS, Patronas NJ, Packman S, et al (1996) Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small in-frame deletion. Biochem Mol Med 57:37-46
14. Kaler SG, Gallo LK, Proud VK, Percy AK, Mark Y, Segal NA, Goldstein DS, et al (1994) Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat Genet 8:195-202
15. Ketterling RP, Drost JB, Scaringe WA, Liao D-Z, Liu J-Z, Kasper CK, Sommer SS (1999) Reported in vivo splice-site mutations in the factor IX gene: severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations. Hum Mutat 13:221-231
16. Kodama H, Murata Y (1999) Molecular genetics and pathophysiology of Menkes disease. Pediatr Int 41:430-435
17. Kodama H, Murata Y, Kobayashi M (1999) Clinical manifestations and treatment of Menkes disease and its variants. Pediatr Int 41:423-429
18. Levinson B, Conant R, Schnur R, Das S, Packman S, Gitschier J (1996) A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. Hum Mol Genet 5:1737-1742
19. Mentzel HJ, Seidel J, Vogt S, Vogt L, Kaiser WA (1999) Vascular complications (splenic and hepatic artery aneurysms) in the occipital horn syndrome: report of a patient and review of the literature. Pediatr Radiol 29:19-22
20. Nedelman J, Heagerty P, Lawrence F (1992) Quantitative PCR with internal controls. Comput Appl Biosci 8:65-70
21. Pena MMO, Lee J, Thiele DJ (1999) A delicate balance: homeostatic control of copper uptake and distribution. J Nutr 129:1251-1260
22. Petris MJ, Mercer JFB, Culvenor JG, Lockhart P, Gleeson PA, Camakaris J (1996) 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. EMBO J 15:6084-6095
23. Proud VK, Mussell HG, Kaler SG, Young DW, Percy AK (1996) Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype. Am J Med Genet 65:44-51
24. Qi M, Byers PH (1998) Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the Menkes protein and produces the occipital horn syndrome. Hum Mol Genet 7:465-469
25. Ronce N, Moizard MP, Robb L, Toutain A, Villard L, Moraie C (1997) A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. Am J Hum Genet 61:233-238
26. Sarkar G, Yoon H-S, Sommer SS (1992) Dideoxy fingerprinting (ddF): a rapid and efficient screen for the presence of mutations. Genomics 13:441-443
27. Siebert PD, Larrick W (1992) Competitive PCR. Nature 359: 557-558
28. Tümer Z, Horn N, Tønnesen T, Christodoulou J, Clarke JTR, Sarker B (1996) Early copper-histidine treatment for Menkes disease. Nat Genet 12:11-13
29. Tümer Z, Lund C, Tolshave J, Vural B, Tønnesen T, Horn N (1997) Identification of point mutations in 41 unrelated patients affected with Menkes disease. Am J Hum Genet 60: 63-71
30. Tümer Z, Møller LB, Horn N (1999) Mutation spectrum of ATP7A, the gene defective in Menkes disease. In: Leone A, Mercer JFB (eds) Copper transport and its disorders: molecular and cellular aspects. Kluwer Academic/Plenum Publishers, New York, pp 83-95
31. Tümer Z, Tønnesen T, Horn N (1994) Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis. J Inherit Metab Dis 17: 267-270
32. Tümer Z, Vural B, Tønnesen T, Chelly J, Monaco AP, Horn N (1995) Characterization of the exon structure of the Menkes disease gene using Vectorette PCR. Genomics 26:437-442
33. Wittwer CT, Ririe KM, Andrew RV, David DA, Gundry RA, Balis UJ (1997) The LightCycler: microvolume multisample fluorimeter with rapid temperature control. Biotechniques 22:176-181
34. Yamaguchi Y, Heiny ME, Suzuki M, Gitlin J (1996) Biochemical characterization and intracellular localization of the Menkes disease protein. Proc Natl Acad Sci USA 93: 14030-14035