title: Novel mutations of ATP2A2 gene in Japanese patients of Darier's disease.
abstract: Darier's disease (DD) is a rare, dominantly inherited skin disorder with abnormal keratinization and acantholysis. Recently, mutations of ATP2A2 encoding the sarco/endoplasmic reticulum Ca(2+)-ATPase type 2 isoform (SERCA2) have been reported in Caucasian DD families. In the present study, we examined the ATP2A2 gene mutations of three sporadic (AS1,AS3,AS4) and one familial (AS2) Japanese DD patients. Sequence analysis revealed that the patients had novel mutations, one nonsense mutation (AS1 (C613X)) and three single base changes leading to amino acid substitutions (AS2 (L321F), AS3 (I274V), and AS4 (M719I)). These results demonstrate that distinct ATP2A2 gene mutations are present in Japanese DD patients.
authors.affiliation: Department of Dermatology, Asahikawa Medical College, 2-1-1 Midorigaoka Higashi, Asahikawa 078-8510, Japan. ht@asahikawa-med.ac.jp
authors.forename: H
authors.initials: H
authors.lastname: Takahashi
authors.forename: Y
authors.initials: Y
authors.lastname: Atsuta
authors.forename: K
authors.initials: K
authors.lastname: Sato
authors.forename: A
authors.initials: A
authors.lastname: Ishida-Yamamoto
authors.forename: H
authors.initials: H
authors.lastname: Suzuki
authors.forename: H
authors.initials: H
authors.lastname: Iizuka
mesh_terms: D000368:Aged; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D007644:Darier Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases
chemical_list: D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human; D000252:Calcium-Transporting ATPases