Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation

British Journal of Dermatology

Volumn 157, Issue 3, 2007, Pages 605-608

  Hamada, T ^a   Yasumoto, S ^a   Karashima, T ^a   Ishii, N ^a   Shimada, H ^a   Kawano, Y ^a   Imayama, S ^b   McGrath, J A ^c   Hashimoto, T ^a  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NATIONAL HOSPITAL ORGANIZATION KYUSHU MEDICAL CENTER   (Japan)

^c ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

ATP2A2; Autosomal dominant; Haemorrhagic Darier disease; Inherited skin disease

Indexed keywords

PROTEIN; PROTEIN ATP2A2; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; DARIER DISEASE; EPIDERMOLYSIS BULLOSA SIMPLEX; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; JAPANESE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECURRENT DISEASE; SKIN PIGMENTATION;

ADULT; DIAGNOSIS, DIFFERENTIAL; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; HUMANS; KERATIN-14; KERATOSIS FOLLICULARIS; PEDIGREE; PIGMENTATION DISORDERS; TREATMENT OUTCOME;

EID: 34547899170     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2007.08086.x     Document Type: Article

References (19)

1. Burge SM, Wilkinson JD. Darier-White disease: a review of the clinical features in 163 patients. J Am Acad Dermatol 1992 27 : 40 50.
2. Burge SM, Garrod DR. An immunohistological study of desmosomes in Darier's disease and Hailey-Hailey disease. Br J Dermatol 1991 124 : 242 51.
3. 2+ pump, cause Darier disease. Nat Genet 1999 21 : 271 7.
4. Foggia L, Hovnanian A. Calcium pump disorders of the skin. Am J Med Genet C Semin Med Genet 2004 131C : 20 31.
5. Jones WN, Nix TE Jr., Clark WH Jr. Hemorrhagic Darier's disease. Arch Dermatol 1964 89 : 523 7.
6. Foresman PL, Goldsmith LA, Ginn L, Beck AL. Hemorrhagic Darier's disease. Arch Dermatol 1993 129 : 511 12.
7. Ruiz-Perez VL, Carter SA, Healy E et al. ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. Hum Mol Genet 1999 8 : 1621 30.
8. Pecina-Slaus N, Milavec-Puretic V, Kubat M et al. Clinical case of acral hemorrhagic Darier's disease is not caused by mutations in exon 15 of the ATP2A2 gene. Coll Antropol 2003 27 : 125 33.
9. Ishida-Yamamoto A, McGrath JA, Chapman SJ et al. Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14. J Invest Dermatol 1991 97 : 959 68.
10. McGrath JA. Inherited disorders of desmosomes. Australas J Dermatol 2005 46 : 221 9.
11. Uttam J, Hutton E, Coulombe PA et al. The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. Proc Natl Acad Sci USA 1996 93 : 9079 84.
12. Irvine AD, McKenna KE, Jenkinson H, Hughes AE. A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation. J Invest Dermatol 1997 108 : 809 10.
13. Moog U, de Die-Smulders CE, Scheffer H et al. Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients. Am J Med Genet 1999 86 : 376 9.
14. Irvine AD, Rugg EL, Lane EB et al. Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation. Br J Dermatol 2001 144 : 40 5.
15. Hamada T, Ishii N, Kawano Y et al. The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. Br J Dermatol 2004 150 : 609 11.
16. Hamada T, Kawano Y, Szczecinska W et al. Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland. Arch Dermatol Res 2005 296 : 577 9.
17. Kouklis PD, Hutton E, Fuchs E. Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins. J Cell Biol 1994 127 : 1049 60.
18. 2+-ATPase. Nature 1989 339 : 476 8.
19. Dhitavat J, Cobbold C, Leslie N et al. Impaired trafficking of the desmoplakins in cultured Darier's disease keratinocytes. J Invest Dermatol 2003 121 : 1349 55.