Somatic Variants of KRT1/KRT10 Identified by Next-generation Sequencing in Patients with Epidermal Nevi

Authors

  • Shuya Sun Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China
  • Ran Mo Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China
  • Zhiming Chen Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China
  • Yong Yang Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China
  • Ruiyu Xiang Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China

DOI:

https://doi.org/10.2340/actadv.v104.40958

Keywords:

epidermal nevi, keratin genes, somatic variants, next-generation sequencing

Abstract

Abstract is missing (Short communication)

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References

Paller AS, Syder AJ, Chan YM, Yu QC, Hutton E, Tadini G, et al. Genetic and clinical mosaicism in a type of epidermal nevus. N Engl J Med 1994; 331: 1408-1415.

https://doi.org/10.1056/NEJM199411243312103 DOI: https://doi.org/10.1056/NEJM199411243312103

Samuelov L, Sarig O, Gat A, Halachmi S, Shalev S, Sprecher E. Extensive lentigo simplex, linear epidermolytic naevus and epidermolytic naevus comedonicus caused by a somatic mutation in KRT10. Br J Dermatol 2015; 173: 293-296.

https://doi.org/10.1111/bjd.13616 DOI: https://doi.org/10.1111/bjd.13616

Haruna K, Suga Y, Mizuno Y, Hasegawa T, Kourou K, Matsuba S, et al. R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis. J Dermatol 2007; 34: 545-548.

https://doi.org/10.1111/j.1346-8138.2007.00328.x DOI: https://doi.org/10.1111/j.1346-8138.2007.00328.x

Livingstone E, Hillen U, Hafner C, Piel S, Groesser L, Schadendorf D, et al. Segmentally arranged seborrhoeic keratoses with impending atypia and squamous cell carcinoma in an elderly woman. Br J Dermatol 2015; 172: 1642-1625.

https://doi.org/10.1111/bjd.13562 DOI: https://doi.org/10.1111/bjd.13562

Morren M-A, Fodstad H, Brems H, Bedoni N, Guenova E, Jacot-Guillarmod M, et al. Mosaic RASopathies concept: different skin lesions, same systemic manifestations? J Med Genet 2024; 61: 411-419.

https://doi.org/10.1136/jmg-2023-109306 DOI: https://doi.org/10.1136/jmg-2023-109306

Hafner C, Toll A, Real FX. HRAS mutation mosaicism causing urothelial cancer and epidermal nevus. N Engl J Med 2011; 365: 1940-1942.

https://doi.org/10.1056/NEJMc1109381 DOI: https://doi.org/10.1056/NEJMc1109381

Kono M, Suga Y, Akashi T, Ito Y, Takeichi T, Muro Y, et al. A child with epidermolytic ichthyosis from a parent with epidermolytic nevus: risk evaluation of transmission from mosaic to germline. J Invest Dermatol 2017; 137: 2024-2026.

https://doi.org/10.1016/j.jid.2017.04.036 DOI: https://doi.org/10.1016/j.jid.2017.04.036

Breuss MW, Yang X, Gleeson JG. Sperm mosaicism: implications for genomic diversity and disease. Trends Genet 2021; 37: 890-902.

https://doi.org/10.1016/j.tig.2021.05.007 DOI: https://doi.org/10.1016/j.tig.2021.05.007

Mohamad J, Samuelov L, Assaf S, Vodo D, Sarig O, Sprecher E. Epidermolytic epidermal nevus caused by a somatic mutation in KRT2. Pediatr Dermatol 2021; 38: 538-540.

https://doi.org/10.1111/pde.14529 DOI: https://doi.org/10.1111/pde.14529

Diociaiuti A, Castiglia D, Corbeddu M, Rotunno R, Rossi S, Pisaneschi E, et al. First case of KRT2 epidermolytic nevus and novel clinical and genetic findings in 26 Italian patients with keratinopathic ichthyoses. Int J Mol Sci 2020; 21: 7707.

https://doi.org/10.3390/ijms21207707 DOI: https://doi.org/10.3390/ijms21207707

Waldvogel SM, Posey JE, Goodell MA. Human embryonic genetic mosaicism and its effects on development and disease. Nat Rev Genet 2024; 25: 698-714.

https://doi.org/10.1038/s41576-024-00715-z DOI: https://doi.org/10.1038/s41576-024-00715-z

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Published

2024-10-22

How to Cite

Sun, S., Mo, R., Chen, Z., Yang, Y., & Xiang, R. (2024). Somatic Variants of KRT1/KRT10 Identified by Next-generation Sequencing in Patients with Epidermal Nevi. Acta Dermato-Venereologica, 104, adv40958. https://doi.org/10.2340/actadv.v104.40958

Issue

Vol. 104 (2024)

Section

Short Communication

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Copyright (c) 2024 Shuya Sun, Ran Mo, Zhiming Chen, Yong Yang, Ruiyu Xiang

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