<i>ACTB</i> Mutations Analysis and Genotype–Phenotype Correlation in Becker’s Nevus
Becker’s nevus (BN) is a cutaneous hamartoma which is characterized by circumscribed hyperpigmentation with hypertrichosis. Recent studies have revealed that BN patients harbored postzygotic <i>ACTB</i> mutations, which were restricted to arrector pili muscle lineage. We screened for <...
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| Format: | Article |
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MDPI AG
2021-12-01
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| Series: | Biomedicines |
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| Online Access: | https://www.mdpi.com/2227-9059/9/12/1879 |
| _version_ | 1797506518370746368 |
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| author | Shangzhi Dai Huijun Wang Zhimiao Lin |
| author_facet | Shangzhi Dai Huijun Wang Zhimiao Lin |
| author_sort | Shangzhi Dai |
| collection | DOAJ |
| description | Becker’s nevus (BN) is a cutaneous hamartoma which is characterized by circumscribed hyperpigmentation with hypertrichosis. Recent studies have revealed that BN patients harbored postzygotic <i>ACTB</i> mutations, which were restricted to arrector pili muscle lineage. We screened for <i>ACTB</i> mutations in 20 Chinese patients with BN and found that recurrent mutations (c.C439A or c.C439T) in <i>ACTB</i> were detected in the majority of BN patients. However, more than 20% of the patients were negative for <i>ACTB</i> mutations, suggesting a possible genetic heterogeneity in Becker’s nevus. Interestingly, these mutations were also detected in dermal tissues outside the arrector pili muscle. We further performed genotype–phenotype correlation analysis, which revealed that lesions above the waistline, including the trunk above the anterior superior spine level, upper limbs and face, or covering more than 1% BSA were more likely to be positive for <i>ACTB</i> mutations. Altogether, our results provide further evidence of postzygotic <i>ACTB</i> mutations in BN patients and suggest a possible genotype–phenotype correlation of BN. |
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| institution | Directory Open Access Journal |
| issn | 2227-9059 |
| language | English |
| last_indexed | 2024-03-10T04:33:47Z |
| publishDate | 2021-12-01 |
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| spelling | doaj.art-780edbbf966141cc8d9db99a9c6f92a62023-11-23T03:56:59ZengMDPI AGBiomedicines2227-90592021-12-01912187910.3390/biomedicines9121879<i>ACTB</i> Mutations Analysis and Genotype–Phenotype Correlation in Becker’s NevusShangzhi Dai0Huijun Wang1Zhimiao Lin2Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, ChinaDepartment of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, ChinaDepartment of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, ChinaBecker’s nevus (BN) is a cutaneous hamartoma which is characterized by circumscribed hyperpigmentation with hypertrichosis. Recent studies have revealed that BN patients harbored postzygotic <i>ACTB</i> mutations, which were restricted to arrector pili muscle lineage. We screened for <i>ACTB</i> mutations in 20 Chinese patients with BN and found that recurrent mutations (c.C439A or c.C439T) in <i>ACTB</i> were detected in the majority of BN patients. However, more than 20% of the patients were negative for <i>ACTB</i> mutations, suggesting a possible genetic heterogeneity in Becker’s nevus. Interestingly, these mutations were also detected in dermal tissues outside the arrector pili muscle. We further performed genotype–phenotype correlation analysis, which revealed that lesions above the waistline, including the trunk above the anterior superior spine level, upper limbs and face, or covering more than 1% BSA were more likely to be positive for <i>ACTB</i> mutations. Altogether, our results provide further evidence of postzygotic <i>ACTB</i> mutations in BN patients and suggest a possible genotype–phenotype correlation of BN.https://www.mdpi.com/2227-9059/9/12/1879Becker’s nevusmosaicism<i>ACTB</i> mutationgenotype–phenotype correlation |
| spellingShingle | Shangzhi Dai Huijun Wang Zhimiao Lin <i>ACTB</i> Mutations Analysis and Genotype–Phenotype Correlation in Becker’s Nevus Biomedicines Becker’s nevus mosaicism <i>ACTB</i> mutation genotype–phenotype correlation |
| title | <i>ACTB</i> Mutations Analysis and Genotype–Phenotype Correlation in Becker’s Nevus |
| title_full | <i>ACTB</i> Mutations Analysis and Genotype–Phenotype Correlation in Becker’s Nevus |
| title_fullStr | <i>ACTB</i> Mutations Analysis and Genotype–Phenotype Correlation in Becker’s Nevus |
| title_full_unstemmed | <i>ACTB</i> Mutations Analysis and Genotype–Phenotype Correlation in Becker’s Nevus |
| title_short | <i>ACTB</i> Mutations Analysis and Genotype–Phenotype Correlation in Becker’s Nevus |
| title_sort | i actb i mutations analysis and genotype phenotype correlation in becker s nevus |
| topic | Becker’s nevus mosaicism <i>ACTB</i> mutation genotype–phenotype correlation |
| url | https://www.mdpi.com/2227-9059/9/12/1879 |
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