Detection of gene mutation in a case of Nagashima-type palmoplantar keratoderma
[Objective] To report a case of Nagashima-type palmoplantar keratoderma (NPPK), identify pathogenic gene, and assist clinical diagnosis and classification of this disease. [Methods] Clinical data of the patient were collected. Genomic DNA was extracted from the patient′s peripheral blood sample. Who...
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| Format: | Article |
| Language: | zho |
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editoiral office of Journal of Diagnosis and Therapy on Dermato-venereology
2025-01-01
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| Series: | Pifu-xingbing zhenliaoxue zazhi |
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| Online Access: | http://pfxbzlx.gdvdc.com/EN/10.3969/j.issn.1674-8468.2025.01.004 |
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| _version_ | 1825199554693169152 |
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| author | CAO Yuanyuan YUAN Zhaojun JIN Chuanyang WANG Tianzi LIAO Xiaojie LIU Hong |
| author_facet | CAO Yuanyuan YUAN Zhaojun JIN Chuanyang WANG Tianzi LIAO Xiaojie LIU Hong |
| author_sort | CAO Yuanyuan |
| collection | DOAJ |
| description | [Objective] To report a case of Nagashima-type palmoplantar keratoderma (NPPK), identify pathogenic gene, and assist clinical diagnosis and classification of this disease. [Methods] Clinical data of the patient were collected. Genomic DNA was extracted from the patient′s peripheral blood sample. Whole exome high-throughput sequencing was used to identify the pathogenic mutation, and Sanger sequencing was applied to verify the mutation site. [Results] Heterozygous mutations of c.455G>T (p.Gly152Val) and c.796C>T (p.Arg266Ter) were found in the patient. The patient′s father was a heterozygous carrier of the mutation c.455G>T without the c.796C>T mutation, and his mother was a heterozygous carrier of the mutation c.796C>T without the c.455G>T mutation. Together with the clinical manifestations of diffuse erythema on the palms and toes since childhood, the patient was diagnosed with NPPK. [Conclusions] The c.455G>T and c.796C>T heterozygous mutations in the SERPINB7 gene are the pathogenic cause of NPPK in this patient. The diagnosis and disease type of the patient are clarified, and genetic counseling is provided according to the patient′s request. |
| format | Article |
| id | doaj-art-1eb8790250ea44f6bda493474b79dd21 |
| institution | Kabale University |
| issn | 1674-8468 |
| language | zho |
| publishDate | 2025-01-01 |
| publisher | editoiral office of Journal of Diagnosis and Therapy on Dermato-venereology |
| record_format | Article |
| series | Pifu-xingbing zhenliaoxue zazhi |
| spelling | doaj-art-1eb8790250ea44f6bda493474b79dd212025-02-08T03:48:35Zzhoeditoiral office of Journal of Diagnosis and Therapy on Dermato-venereologyPifu-xingbing zhenliaoxue zazhi1674-84682025-01-01321232710.3969/j.issn.1674-8468.2025.01.004Detection of gene mutation in a case of Nagashima-type palmoplantar keratodermaCAO Yuanyuan0YUAN Zhaojun1JIN Chuanyang2WANG Tianzi3LIAO Xiaojie4LIU Hong5Hospital for Skin Diseases, Shandong First Medical UniversityHospital for Skin Diseases, Shandong First Medical UniversityHospital for Skin Diseases, Shandong First Medical UniversityHospital for Skin Diseases, Shandong First Medical UniversityHospital for Skin Diseases, Shandong First Medical UniversityHospital for Skin Diseases, Shandong First Medical University[Objective] To report a case of Nagashima-type palmoplantar keratoderma (NPPK), identify pathogenic gene, and assist clinical diagnosis and classification of this disease. [Methods] Clinical data of the patient were collected. Genomic DNA was extracted from the patient′s peripheral blood sample. Whole exome high-throughput sequencing was used to identify the pathogenic mutation, and Sanger sequencing was applied to verify the mutation site. [Results] Heterozygous mutations of c.455G>T (p.Gly152Val) and c.796C>T (p.Arg266Ter) were found in the patient. The patient′s father was a heterozygous carrier of the mutation c.455G>T without the c.796C>T mutation, and his mother was a heterozygous carrier of the mutation c.796C>T without the c.455G>T mutation. Together with the clinical manifestations of diffuse erythema on the palms and toes since childhood, the patient was diagnosed with NPPK. [Conclusions] The c.455G>T and c.796C>T heterozygous mutations in the SERPINB7 gene are the pathogenic cause of NPPK in this patient. The diagnosis and disease type of the patient are clarified, and genetic counseling is provided according to the patient′s request.http://pfxbzlx.gdvdc.com/EN/10.3969/j.issn.1674-8468.2025.01.004palmoplantar keratosisnagashima-typeserpinb7 genecompound heterozygous mutations |
| spellingShingle | CAO Yuanyuan YUAN Zhaojun JIN Chuanyang WANG Tianzi LIAO Xiaojie LIU Hong Detection of gene mutation in a case of Nagashima-type palmoplantar keratoderma Pifu-xingbing zhenliaoxue zazhi palmoplantar keratosis nagashima-type serpinb7 gene compound heterozygous mutations |
| title | Detection of gene mutation in a case of Nagashima-type palmoplantar keratoderma |
| title_full | Detection of gene mutation in a case of Nagashima-type palmoplantar keratoderma |
| title_fullStr | Detection of gene mutation in a case of Nagashima-type palmoplantar keratoderma |
| title_full_unstemmed | Detection of gene mutation in a case of Nagashima-type palmoplantar keratoderma |
| title_short | Detection of gene mutation in a case of Nagashima-type palmoplantar keratoderma |
| title_sort | detection of gene mutation in a case of nagashima type palmoplantar keratoderma |
| topic | palmoplantar keratosis nagashima-type serpinb7 gene compound heterozygous mutations |
| url | http://pfxbzlx.gdvdc.com/EN/10.3969/j.issn.1674-8468.2025.01.004 |
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