The ATP2A2 gene in patients with Darier's disease: one novel splicing mutation.
BACKGROUND
Darier's disease (DD) is a rare, inherited skin disorder characterized by warty papules and plaques over the seborrheic area, such as central trunk, flexures, scalp, and forehead. Mutations in ATP2A2 gene encoding the enzyme sarco/endoplasmic reticulum Ca(2+) ATPase type 2 are responsible for the disease. Here we report two Chinese families affected by DD with two ATP2A2 mutations.


METHODS
DNA was extracted from the peripheral blood samples and then subjected to polymerase chain reaction amplification and direct automated DNA sequencing.


RESULTS
A heterozygous G to T transition in the first nucleotide of intron 7 (c.630 + 1G>T) and G to A transversion at nucleotide 2898 in exon 20 of the ATP2A2 gene were identified in two pedigrees, respectively. The former mutation in the splice site is a novel mutation and is thought to lead to aberrant splicing and premature protein truncation. The latter has already been described, which leads to premature termination codons (PTC) (W966X).


CONCLUSIONS
The results will contribute to the expanding database of ATP2A2 mutations in patients with DD and be useful for inherited counseling and prenatal examination for affected families.
Department of Dermatology, the First People's Hospital of Chongqing City, Chongqing, China.
Bing-Jun
BJ
Shi
Mei
M
Xue
Gui-Shu
GS
Zhong
Yang
Y
Jiang
De-Yu
DY
Chen
Jie
J
Feng
Jing
J
Hao
Qing-Chun
QC
Diao
D000328:Adult; D044466:Asian People / Q000235:genetics; D002681:China; D007644:Darier Disease / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation; D010375:Pedigree; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult
D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human