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[Mutation analysis of keratin 9 gene in a family with epidermolytic palmoplantar keratoderma]. 2012

Yan-li Li, and Na-na Li, and Yan-ping Wang, and Ming-rong Li, and Li Dai, and Ying Deng, and Zhen Liu, and De-zhi Mu, and Jun Zhu
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R. China.

OBJECTIVE To analyze potential mutation of keration 9 gene (KRT9) in a Chinese family affected with epidermolytic palmoplantar keratoderma (EPPK) and to correlate genotype with the phenotype. METHODS Genomic DNA was extracted from peripheral blood samples of 12 patients and 13 healthy individuals from the family and 100 unrelated individuals. Polymerase chain reaction (PCR) was used to amplify exons 1 and 6 of KRT9 gene. PCR products were sequenced bidirectionally in order to identify potential mutations. RESULTS A heterozygous transversional mutation, 488G→A, was identified in exon 1 of KRT9 gene in all patients, which has resulted in substitution of a glutamine residue for arginine acid at position 163 (R163Q) of the KRT9 protein. The same mutation was not found in the 13 healthy members from the family and 100 unrelated individuals. CONCLUSIONS The 488G→A mutation of KRT9 gene is probably the cause of EPPK in this Chinese family.

UI MeSH Term Description Entries
D008297 Male Males
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D001483 Base Sequence The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence. DNA Sequence,Nucleotide Sequence,RNA Sequence,DNA Sequences,Base Sequences,Nucleotide Sequences,RNA Sequences,Sequence, Base,Sequence, DNA,Sequence, Nucleotide,Sequence, RNA,Sequences, Base,Sequences, DNA,Sequences, Nucleotide,Sequences, RNA
D053534 Keratin-9 A type II keratin found predominantly expressed in the terminally differentiated EPIDERMIS of palms and soles. Mutations in the gene for keratin 9 are associated with KERATODERMA, PALMOPLANTAR, EPIDERMOLYTIC. Cytokeratin 9,Cytokeratin-9,Keratin 9
D053546 Keratoderma, Palmoplantar, Epidermolytic An autosomal dominant hereditary skin disease characterized by epidermolytic hyperkeratosis that is strictly confined to the palms and soles. It has been associated with mutations in the gene that codes for KERATIN-9. EPPK (Epidermolytic Palmoplantar Keratoderma),Epidermolytic Palmoplantar Keratoderma Vorner Type,Hyperkeratosis, Localized Epidermolytic,Keratoderma, Epidermolytic Palmoplantar,Keratosis of Greither,Palmoplantar Keratoderma, Epidermolytic,Thost-Unna Disease, Epidermolytic,Unna-Thost Disease, Epidermolytic,EPPKs (Epidermolytic Palmoplantar Keratoderma),Epidermolytic Hyperkeratoses, Localized,Epidermolytic Hyperkeratosis, Localized,Epidermolytic Palmoplantar Keratoderma,Epidermolytic Palmoplantar Keratodermas,Epidermolytic Thost-Unna Disease,Epidermolytic Unna-Thost Disease,Greither Keratosis,Hyperkeratoses, Localized Epidermolytic,Keratodermas, Epidermolytic Palmoplantar,Localized Epidermolytic Hyperkeratoses,Localized Epidermolytic Hyperkeratosis,Palmoplantar Keratodermas, Epidermolytic,Thost Unna Disease, Epidermolytic,Unna Thost Disease, Epidermolytic

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