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Nagashima-type palmoplantar keratosis in a Chinese Han population.
- Source :
-
Molecular medicine reports [Mol Med Rep] 2016 Nov; Vol. 14 (5), pp. 4049-4054. Date of Electronic Publication: 2016 Sep 21. - Publication Year :
- 2016
-
Abstract
- 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.
- Subjects :
- Adolescent
Adult
Antigens, Ly genetics
Aquaporin 5 genetics
Asian People
Child
Child, Preschool
China
Cystatin A genetics
Female
Founder Effect
Heterozygote
High-Throughput Nucleotide Sequencing
Homozygote
Humans
Infant
Keratin-1 genetics
Keratin-9 genetics
Keratoderma, Palmoplantar pathology
Male
Middle Aged
Mutation
Pedigree
Urokinase-Type Plasminogen Activator genetics
Genetic Testing
Keratoderma, Palmoplantar genetics
Serpins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1791-3004
- Volume :
- 14
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Molecular medicine reports
- Publication Type :
- Academic Journal
- Accession number :
- 27666198
- Full Text :
- https://doi.org/10.3892/mmr.2016.5757