ATP2A2 mutations in Darier's disease: Variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class

Human Molecular Genetics

Volumn 8, Issue 9, 1999, Pages 1621-1630

  Ruiz Perez, Victor L ^a   Carter, Simon A ^a   Healy, Eugene ^a   Todd, Carole ^a   Rees, Jonathan L ^a   Steijlen, Peter M ^b   Carmichael, Andrew J ^c   Lewis, Helen M ^d   Hohl, D ^e   Itin, Peter ^f   Vahlquist, Anders ^g   Gobello, T ^h   Mazzanti, C ^h   Reggazini, R ⁱ   Nagy, Gyula ^j   Munro, Colin S ^k   Strachan, Tom ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c JAMES COOK UNIVERSITY HOSPITAL   (United Kingdom)

^d SELLY OAK HOSPITAL   (United Kingdom)

^e LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^f UNIVERSITY HOSPITAL BASEL   (Switzerland)

^g UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^h LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

ⁱ SANT ANNA HOSPITAL   (Italy)

^j Kaposi Mór Megyei Korh ^*  (Hungary)

^k SOUTHERN GENERAL HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BLEEDING; DARIER DISEASE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; MAJOR CLINICAL STUDY; MENTAL DISEASE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

CALCIUM-TRANSPORTING ATPASES; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EUROPE; HUMANS; IMMUNOHISTOCHEMISTRY; ISOENZYMES; KERATOSIS FOLLICULARIS; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SKIN;

EID: 0032877634     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.9.1621     Document Type: Article

References (46)

1. Burge, S. and Wilkinson, D.J. (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. Rongioletti, F., Cestari, R. and Rebora, A. (1990) Vemicous and malodorous vegetations on the legs. Darier's disease, cornifying type. Arch. Dermatol., 128, 399-399.
4. Jones, W.N., Nix, T.E. and Clark, W.H. (1964) Haemorrhagic Darier's disease. Arch. Dermatol., 89, 523-527.
5. Foresman, P.L., Goldsmith, L.A., Ginn, L. and Beck, A.L. (1993) Haemorrhagic Darier's disease. Arch. Dermatol., 129, 511-512.
6. Boeck, C. (1916) Demonstration of a case of Darier's disease with psychological aberration. In Proceedings of the Third Congress of the Nordic Dermatological Society.
7. Cockayne, E.A. (1933) Darier's disease. In Inherited Abnormalities of the Skin and its Appendages. Oxford University Press, London, pp. 135-137.
8. Medansky, R.S. and Woloshin, A.A. (1961) Darier's disease: an evaluation of its neuropsychiatrie component. Arch. Dermatol., 84, 482-484.
9. Getzler, N.A. and Flint, A. (1966) Keratosis follicularis: a study of one family. Arch. Dermatol., 93, 545-549.
10. Craddock, N. et al. (1994) Familial cosegregation of major affective disorder and Darier's disease (keratosis follicularis). Br. J. Psychiatry, 164, 355-358.
11. Svensen, I.B. and Albrechtsen, B. (1961) The prevalence of dyskeratosis follicularis (Darier's disease) in Denmark. Acta Derm.-Venereol., 30, 256-269.
12. Burge, S. and Garrod, D.R. (1991) An immunohistological study of desmosomes in Darier's disease and Hailey-Hailey disease. Br. J. Dermatol., 124, 242-251.
13. 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.
14. 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.
15. Carter, S.A., Bryce, S.D., Munro, C.S., Healy, E., Bashir, R., Weissenbach, J., LeBlanc-Straceski, J., Kucherlapati, R., Stephenson, A., Rees, J.L. and Strachan, T. (1994) Linkage analyses in British pedigrees suggest a single locus for Darier disease and narrow the location to the interval between D12S105 and D12S129. Genomics, 24, 378-382.
16. Ikeda, S., Haake, W.A., Ewing, N., Polakowska, R., Sarret, Y., Trattner, A., David, M., Shohat, M. Schroeder, D.W., Epstein, E.H. and Goldsmith, L.A. (1994) Localization of the gene for Darier disease to a 5-cM interval on chromosome 12q. J. Invest. Dermatol., 103, 478-481.
17. Parfitt, E. et al. (1994) The gene for Darier's disease maps between D12S78 and D12S79. Hum. Mol. Genet., 3, 35-38.
18. Wakem, P. et al. (1996) Localization of the Darier disease gene to a 2-cM portion of 12q23-24.1. J. Invest. Dermatol., 106, 365-367.
19. Monk, S. et al. (1998) Refined genetic mapping of the Darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region. Am. J. Hum Genet., 62, 890-903.
20. Sakuntabhai, A., Ruiz-Perez, V., Carter, S., Jacobsen, N., Burge, S., Monk, S., Smith, M., Munro, C.S., O'Donovan, M., Craddock, N., Kucherlapati, R., Rees, J.L., Owen, M., Lathrop, G.M., Monaco, A.P., Strachan, T. and Hovnanian, A. (1999) Mutations in ATP2A2, encoding a Ca (2+) pump, cause Darier disease. Nature Genet., 21, 271-277.
21. 2+-ATPases. J. Biol. Chem., 272, 28815-28818.
22. 2+-ATPaSe gene. J. Biol. Chem., 263, 15024-15031.
23. Berridge, M.J. (1997) Elementary and global aspects of calcium signalling. J. Physiol., 499, 291-306.
24. 2+-transport ATPase. Biochem. J., 264, 765-769.
25. 2+-pump isoforms and of phospholamban in pig smooth muscle tissues. Biochem. J., 271, 649-653.
26. Lytton, J., Westlin, M., Burk, S.E., Shull, G.E. and Maclennan, D.H. (1992) Functional comparisons between isoforms of the sarcoplasmic or endoplasmic reticulum family of calcium pumps. J. Biol. Chem., 267, 14483-14489.
27. 2+ ATPase, are associated with Brody disease. Nature Genet., 14, 191-194.
28. 2+-ATPase gene cause deafness in deafwaddler mice. Nature Genet., 19, 390-394.
29. 2+ pump in pig smooth muscle. Biochem. J., 260, 757-761.
30. +-ATPases are on opposite sides of the membrane. J. Biol. Chem., 267, 9321-9325.
31. 2+-transport ATPase (SERCA2a/b). Biochem. J., 303, 979-984.
32. Hentze, M.W. and Kulozik, A.E. (1999) A perfect message: RNA surveillance and nonsense-mediated decay. Cell, 96, 307-310.
33. Watt, F.M., Mattey, D.L. and Garrod, D.R. (1984) Calcium-induced reorganization of desmosomal components in cultured human keratinocytes. J. Cell Biol., 99, 2211-2215.
34. Duden, R. and Franke, W.W. (1988) Organization of desmosomal plaque proteins in cells growing at low calcium concentrations. J. Cell Biol., 107, 1049-1063.
35. 2+-ATPase family of calcium pumps. J. Biol. Chem., 266, 17067-17071.
36. Stuart, R.O., Sun, A., Bush, K.T. and Nigam, S.K. (1996) Dependence of epithelial intercellular junction biogenesis on thapsigargin-sensitive intracellular calcium stores. J. Biol. Chem., 271, 13636-13641.
37. 2+-ATPase isoform 2 (SERCA2) gene. J. Biol. Chem., 274, 2556-2562.
38. Sakuntabhai, A., Burge, S., Monk, S. and Hovnanian, A. (1999) Spectrum of novel ATP2A2 mutations in patients with Darier's disease. Hum. Mol. Genet., 8, 1611-1619.
39. 2+-ATPase of cardiac sarcoplasmic reticulum are critical for functional association with phospholamban. J. Biol. Chem., 269, 22929-22932.
40. 2+/calmodulin-dependent protein kinase. J. Biol. Chem., 269, 26492-26496.
41. 2+-ATPase of sarcoplasmic reticulum. Acta Physiol. Scand. Suppl., 146, 279-284.
42. Itin, P., Büchner, S.A. and Bloor, G. (1988) Darier's disease and retinitis pigmentosa: is there a pathogenetic relationship? Br. J. Dermatol., 119, 397-402.
43. 2+ pumps in the brain. Mol. Chem. Neuropathol., 33, 199-208.
44. 2+ transport ATPase SERCA2 isoforms in the cat brain. Brain Res., 743, 141-153.
45. Nagy, G., Szabo, M. and Nyiro, I. (1990) Genetic and evolutionary analysis of cases of Darier's disease. Orvosi Hetilap, 131, 469-473.
46. Regazzini, R., Zambruno, G., DeFilippi, C., Rosso, R. and Donadini, A. (1996) Isolated acral Darier's disease with haemorrhagic lesions in a kindred. Br. J. Dermatol., 135, 495-496.