Nagashima-type palmoplantar keratosis in a Chinese Han population.
Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive form of palmoplantar keratoderma (PPK), which is caused by mutations in the SERPINB7 gene. NPPK has only been reported in Japanese and Chinese populations. The present study was conducted on 12 unrelated Chinese patients who were clinically predicted to suffer from NPPK. Mutation screening was performed by direct sequencing of the entire coding regions of SERPINB7, SLURP1, AQP5, CSTA, KRT1 and KRT9 genes. Direct sequencing of SERPINB7 revealed five homozygous founder mutations (c.796C>T) and four compound heterozygous mutations in nine patients, including one novel mutation (c.122_127delTGGTCC). Nine out of the 12 patients were diagnosed with NPPK due to SERPINB7 pathogenic mutations, and the results expanded the known mutation spectrum of NPPK. Taking the other seven reported Chinese patients, who had been definitively diagnosed with NPPK by genetic testing, into account, the present study further demonstrated that NPPK is a common entity in Mainland China, and c.796C>T is the most prevalent mutation and exerts a founder effect. Furthermore, the NPPK cases described in the current study presented a consistently mild phenotype, as compared with the degrees of phenotypic variability associated with other types of relatively severe PPK, including Mal de Meleda and Olmsted syndrome.
Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
Jia
J
Zhang
Department of Phototherapy, Shanghai Skin Disease Hospital, Shanghai 200050, P.R. China.
Guolong
G
Zhang
Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
Cheng
C
Ni
Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
Ruhong
R
Cheng
Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
Jianying
J
Liang
Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
Ming
M
Li
Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
Zhirong
Z
Yao
D000293:Adolescent; D000328:Adult; D000950:Antigens, Ly / Q000235:genetics; D051402:Aquaporin 5 / Q000235:genetics; D044466:Asian People; D002648:Child; D002675:Child, Preschool; D002681:China; D055312:Cystatin A / Q000235:genetics; D005260:Female; D018703:Founder Effect; D005820:Genetic Testing; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing; D006720:Homozygote; D006801:Humans; D007223:Infant; D053556:Keratin-1 / Q000235:genetics; D053534:Keratin-9 / Q000235:genetics; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D015843:Serpins / Q000235:genetics*; D014568:Urokinase-Type Plasminogen Activator / Q000235:genetics
C496036:AQP5 protein, human; D000950:Antigens, Ly; D051402:Aquaporin 5; D055312:Cystatin A; C491616:KRT1 protein, human; C507440:KRT9 protein, human; D053556:Keratin-1; D053534:Keratin-9; C114170:SERPINB7 protein, human; C048963:SLURP1 protein, human; D015843:Serpins; C026407:CSTA protein, human; D014568:Urokinase-Type Plasminogen Activator
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