ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes

Human Molecular Genetics

Volumn 8, Issue 9, 1999, Pages 1631-1636

  Jacobsen, Nick J O ^a   Lyons, Ita ^a   Hoogendoorn, Bastiaan ^a   Burge, Susan ^b   Kwok, Pui Yan ^c   O'Donovan, Michael C ^a   Craddock, Nick ^d   Owen, Michael J ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE (CALCIUM);

ADULT; AFFECTIVE NEUROSIS; ARTICLE; BRAIN DISEASE; CHROMOSOME 12Q; CLINICAL ARTICLE; DARIER DISEASE; EPILEPSY; FEMALE; FRAMESHIFT MUTATION; GENE LOCUS; GENE MUTATION; HUMAN; MALE; MENTAL DEFICIENCY; MENTAL DISEASE; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; RNA SPLICING; STOP CODON;

ADULT; CALCIUM-TRANSPORTING ATPASES; CHROMOSOMES, HUMAN, PAIR 12; FEMALE; HUMANS; KERATOSIS FOLLICULARIS; MALE; MEMBRANE PROTEINS; MENTAL DISORDERS; MIDDLE AGED; MUTATION; PHENOTYPE; PROTEIN STRUCTURE, SECONDARY; SKIN;

EID: 0032848744     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.9.1631     Document Type: Article

References (38)

1. Burge, S.M. and Wilkinson, J.D. (1992) Darier-White disease: a review of the clinical features in 163 patients. J. Am. Acad. Dermatol., 27, 40-50.
2. Munro, C.S. (1992) The phenotype of Darier's disease: penetrance and expressivity in adults and children. Br. J. Dermatol., 127, 126-130.
3. Craddock, N., Dawson, E., Burge, S., Parfitt, L., Mant, B., Roberts, Q., Daniels, J., Gill, M., McGuffin, P., Powell, J. and Owen, M. (1993) The gene for Darier's disease maps to chromosome 12q23-q24.1. Hum. Mol. Genet., 2, 1941-1943.
4. Bashir, R., Munro, C.S., Mason, S., Stephenson, A., Rees, J.L. and Strachan, T. (1993) Localisation of a gene for Darier's disease. Hum. Mol. Genet., 2, 1937-1939.
5. Wakem, P., Ikeda, S., Haake, A., Polakowska, R., Ewing, N., Sarret, Y., Duvic, M., Berg, D., Bassett, A., Kennedy, J.L., Tuskis, A., Epstein, E.H. and Goldsmith, L.A. (1996) Localization of the Darier disease gene to a 2cM portion of 12q23-24.1. J. Invest. Dermatol., 106, 365-367.
6. Richard, G., Wright, A.R., Harris, S., Doyle, S.Z., Korge, B., Mazzanti, C., Tanaka, T., Harth, W., McBride, O.W., Compton, J.G., Bale, S.J. and Digiovanna, J.J. (1994) Fine mapping of the Darier's disease locus on chromosome 12q. J. Invest. Dermatol., 103, 665-668.
7. Kennedy, J.L., Berg, D., Bassett, A.S., Roy, R., King, N. and Perkins, M. (1995) Genetic linkage for darier disease (keratosis follicularis). Am. J. Med. Genet., 55, 307-310.
8. 2+ pump, cause Darier disease. Nature Genet., 21, 271-277.
9. 2+-ATPase gene. J. Biol. Chem., 263, 15024-15031.
10. Pozzan, T., Rizzuto, R., Volpe, P. and Meldolesi, J. (1994) Molecular and cellular physiology of intracellular calcium stores. Phys. Rev., 74, 595-636.
11. 2+-dependent ATPase from rabbit muscle sarcoplasmic reticulum, deduced from its complementary-DNA sequence. Nature, 316, 696-700.
12. Burge, S. (1994) Darier's disease - the clinical features and pathogenesis. Clin. Exp. Dermatol., 19, 193-205.
13. Svendsen, I.B. and Albrectsen, B. (1959) The prevalence of dyskeratosis follicularis (Darier's disease) in Denmark. Acta Dermato-Venereol., 39, 256-269.
14. Getzler, N.A. and Flint, A. (1966) Keratosis follicularis. A study of one family. Arch. Dermatol., 93, 545-549.
15. Venencie, P.Y., Dusser, A., Fabre, M., Aitken, G. and Landrieu, P. (1996) Maladie de Darier et encephalopathie evolutive: une observation familiale. [Darier disease and progressive encephalopathy: a familial case]. Ann. Pediatr., 43, 713-715.
16. Clark, R.J., Hammer, C.J. and Patterson, S.D. (1986) A cutaneous disorder (Darier's disease) evidently exacerbated by lithium carbonate. Psychosomatics, 27, 800-801.
17. Milton, G.P., Peck, G.L., Fu, J.J.L., Digiovanna, J.J., Nordlund, J.J., Thomas, J.H. and Sanders, S.F. (1990) Exacerbation of Darier's disease by lithium carbonate. J. Am. Acad. Dermatol., 23, 926.
18. Craddock, N., Owen, M., Burge, S., Kurian, B., Thomas, P. and McGuffin, P. (1994) Familial cosegregation of major affective disorder and Darier's disease (keratosis follicularis). Br. J. Psychiatry, 164, 355-358.
19. Hellwig, B., Hesslinger, B. and Walden, J. (1996) Darier's disease and psychosis. Psychiatr. Res., 64, 205-207.
20. Medansky, R.S. and Woloshin, A.A. (1961) Darier's disease. An evaluation of its neuropsychiatrie component. Arch. Dermatol., 84, 482-484.
21. Peck, G.L., Kraemer, K.H., Wetzel, B., Klinger, W.G. and Cohen, K. (1976) Cornifying Darier's disease - a unique variant. Arch. Dermatol., 112, 495-503.
22. Denicoff, K.D., Lehman, Z.A., Rubinow, D.R., Schmidt, P.J. and Peck, G.L. (1990) Suicidal ideation in Darier's disease. J. Am. Acad. Dermatol., 22, 196-198.
23. Dawson, E., Parfitt, E., Roberts, Q., Daniels, J., Lim, L., Sham, P., Nothen, M., Propping, P., Lanczik, M., Maier, W., Reuner, U., Weissenbach, J., Gill, M., Powell, J., McGuffin, P., Owen, M. and Craddock, N. (1995) Linkage studies of bipolar disorder in the region of the Darier's disease gene on chromosome 12q23-24.1. Am. J. Med. Genet., 60, 94-102.
24. Barden, N., Plante, M. and Rochette, D. (1996) Genome-wide microsatellite marker linkage study of bipolar affective disorders in a very large pedigree derived from a homogenous population in Quebec points to a susceptibility locus on chromosome 12. Psychiatr. Genet., 6, 145-146.
25. Ewald, H., Degn, B., Mors, O. and Kruse, T.A. (1998) Significant linkage between bipolar affective disorder and chromosome 12q24. Psychiatr. Genet., 8, 131-140.
26. Berridge, M.J., Bootman, M.D. and Lipp, P. (1998) Calcium - a life and death signal. Nature, 395, 645-648.
27. + in the treatment of bipolar disorder. Trends Neurosci., 18, 343-349.
28. Jope, R.S., Song, L., Li, P.P., Young, L.T., Kish, S.J., Pacheco, M.A. and Warsh, J.J. (1996) The phosphoinositide signal transduction system is impaired in bipolar affective disorder brain. J. Neurochem., 66, 2402-2409.
29. Los, G.V., Artemenko, I.P. and Hokin, L.E. (1995) Time dependent effects of lithium on the agonist-stimulated accumulation of 2nd messenger inositol 1,4,5-trisphosphate in SH-SY5Y human neuroblastoma cells. Biochem. J., 311, 225-232.
30. Hibbeln, J.R., Palmer, J.W. and Davis, J.M. (1989) Are disturbances in lipid protein interactions by phospholipaseA2 a predisposing factor in affective illness? Biol. Psychiatr., 25, 945-961.
31. 2+ ATPase genes: homologies and mechanistic implications of deduced amino acid sequences. Cell, 44, 597-607.
32. Culbertson, M.R. (1999) RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer. Trends Genet., 15, 74-80.
33. 2+-ATPase by site-directed mutagenesis. Biosci. Rep., 15, 243-261.
34. Cole, D.E., Peltekova, V.D., Rubin, L.A., Hawker, G.A., Vieth, R., Liew, C.C., Hwang, D.M., Evrovski, J. and Hendy, G.N. (1999) A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations. Lancet, 353, 112-115.
35. American Psychiatric Association (1994) Diagnostic and Statistical Manual of Mental Disorders. American Psychiatric Association, Washington, DC.
36. Oefner, P.J. and Underhill, P.A. (1998) In Dracopoli, N.C., Haines, J.L., Korf, B.R., Moir, D.T., Morton, C.C., Seidman, C.E., Seidman, J.G. and Smith, D.R. (eds), Current Protocols in Human Genetics. Wiley and Son, New York, pp. 7.10.1-7.10.12.
37. O'Donovan, M.C., Oefner, P.J., Roberts, S.C., Austin, J.A., Guy, C., Hoogendoorn, B., Sommer, S.S. and McGuffin, P. (1998) Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics, 52, 44-49.
38. Jones, A., Austin, J.A., Hansen, N., Oefner, P.J., Hoogendoorn, B., Cheadle, J.P. and O'Donovan, M.C. (1999) Automated optimal temperature selection for denaturing high-performance liquid chromatography. Clin. Chem., in press.