title: A novel splice-site mutation of ATP2A2 gene in a Chinese family with Darier disease.
abstract: Darier disease (DD; OMIM 124200) is a rare, autosomal dominant hereditary skin disorder characterized by abnormal keratinization and acantholysis. The causes of DD are defects in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca(2+) ATPase isoform 2 (SERCA2). The aim of this study was to report a novel splice-site mutation and to examine the relative quantity expression of ATP2A2 gene in a Chinese family with DD. Polymerase chain reaction (PCR) was carried out to amplify the exons and flanking intron boundaries of the ATP2A2 gene followed by direct sequencing. A novel splice-site mutation (IVS20-6T>A) was found in the family, which was confirmed by creating a novel HinfI (NEB Inc) recognition site and RT-PCR. Real-time quantitative PCR showed approximately 53 and 52% reduction of ATP2A2 expression of the proband and his father, respectively. The results support the proposition that haploinsufficiency is a common mechanism for the dominant inheritance of DD.
authors.affiliation: Department of Dermatology, The Second Hospital of Xi'an Jiaotong University, 157 Xi Wu Road, Xi'an, 710004 Shaanxi, People's Republic of China.
authors.forename: Jia
authors.initials: J
authors.lastname: Huo
authors.forename: Yan
authors.initials: Y
authors.lastname: Liu
authors.forename: Junhong
authors.initials: J
authors.lastname: Ma
authors.forename: Shengxiang
authors.initials: S
authors.lastname: Xiao
mesh_terms: D000051:Acantholysis; D000293:Adolescent; D017668:Age of Onset; D017398:Alternative Splicing / Q000235:genetics; D020013:Calcium Signaling / Q000235:genetics; D002681:China; D025063:Chromosome Disorders; D007644:Darier Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009061:Mouth Mucosa / Q000473:pathology; D009154:Mutation / Q000235:genetics; D009262:Nails / Q000473:pathology; D015995:Prevalence; D011627:Puberty; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics / Q000276:immunology / Q000378:metabolism*; D012627:Sebaceous Glands / Q000276:immunology / Q000378:metabolism* / Q000473:pathology; D014860:Warts; D055815:Young Adult
chemical_list: D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human