Genetic heterogeneity in acrokeratosis verruciformis of Hopf.
BACKGROUND
Acrokeratosis verruciformis of Hopf (AKV) is a rare genodermatosis characterized by multiple flat-topped, flesh-coloured papules on the dorsa of hands and feet, and punctuate keratoses on the palms and soles. A mutation in the ATP2A2 gene has been shown to be associated with AKV and with Darier's disease (DD).


OBJECTIVE
To explore the molecular aetiology of AKV and DD.


METHODS
We investigated the clinical and histological information in two families and a sporadic case with AKV and one family and a sporadic case with DD in China. Mutation analysis of ATP2A2 was performed by PCR and direct sequencing, and genotyping and linkage analysis performed using six polymorphic microsatellite markers spanning the locus at 12q23-12q24 containing ATP2A2.


RESULTS
Mutational analysis showed no mutation in ATP2A2 among the AKV patients, but we found two novel mutations (p.C318F and p.M719fs) in the DD patients. The genotyping and linkage analysis results revealed no linkage evidence of the locus at 12q23-12q24 in a large AKV family.


CONCLUSIONS
Our findings provide evidence for the genetic heterogeneity of AKV and demonstrate that mutations in genes other than ATP2A2 are responsible for AKV in a proportion of the Chinese population.
Wang
P-G
PG
Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, China.
Gao
M
M
Lin
G-S
GS
Yang
S
S
Lin
D
D
Liang
Y-H
YH
Zhang
G-L
GL
Zhu
Y-G
YG
Cui
Y
Y
Zhang
K-Y
KY
Huang
W
W
Zhang
X-J
XJ
D000169:Acrodermatitis / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D004252:DNA Mutational Analysis; D007644:Darier Disease / Q000235:genetics*; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; D012873:Skin Diseases, Genetic / Q000235:genetics*
D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human; D000252:Calcium-Transporting ATPases