Essas características resultam de um defeito nos mecanismos de reparo do DNA após a exposição à radiação ultravioleta (UV). Além das complicações cutâneas, os pacientes estão sujeitos a doenças oculares, processos neurodegenerativos e tumores do sistema nervoso central. Menos de 40% dos pacientes sobrevivem além dos 20 anos.
A utilidade clínica deste painel é:
| GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
| DDB2 | Xeroderma Pigmentosum, Complementation Group E |
AR |
100 |
17 of 17 |
| ERCC1 | Cerebrooculofacioskeletal Syndrome, Cockayne Syndrome Type 2 |
AR |
93.12 |
6 of 6 |
| ERCC2 | Cerebrooculofacioskeletal Syndrome, Photosensitive Trichothiodystrophy, Xeroderma Pigmentosum Complementation Group D Trichothiodystrophy, Xeroderma Pigmentosum, Xeroderma Pigmentosum- Cockayne Syndrome Complex |
AR |
100 |
102 of 102 |
| ERCC3 | Photosensitive Trichothiodystrophy, Xeroderma Pigmentosum Complementation Group B, Xeroderma Pigmentosum- Cockayne Syndrome Complex |
AR |
99.98 |
24 of 24 |
| ERCC4 | Fanconi Anemia Complementation Group Q, Xeroderma Pigmentosum Complementation Group, Progeroid Syndrome, Cockayne Syndrome Type 1 |
AR |
99.68 |
69 of 72 |
| ERCC5 | Cerebrooculofacioskeletal Syndrome, Xeroderma Pigmentosum Complementation Group G, Xeroderma Pigmentosum-Cockayne Syndrome Complex |
AR |
99.94 |
58 of 58 |
| POLH | Xeroderma Pigmentosum Variant |
AR |
99.49 |
73 of 76 |
| XPA | Xeroderma Pigmentosum Complementation Group A |
AR |
99.91 |
49 of 49 |
| XPC | Xeroderma Pigmentosum Complementation Group C |
AR |
99.83 |
86 of 87 |
**HGMD: Número de mutações clinicamente relevantes de acordo com HGMD
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Dupuy, A., & Sarasin, A. (2015). DNA damage and gene therapy of xeroderma pigmentosum, a human DNA repair-deficient disease. Mutation research, 776, 2–8. https://doi.org/10.1016/j.mrfmmm.2014.08.007
DiGiovanna, J., & Kraemer, K. (2012). Shining a Light on Xeroderma Pigmentosum. Journal Of Investigative Dermatology, 132(3), 785-796. doi: 10.1038/jid.2011.426
Gratchev, A., Strein, P., Utikal, J., & Goerdt, S. (2003). Molecular genetics of Xeroderma pigmentosum variant. Experimental Dermatology, 12(5), 529-536. doi: 10.1034/j.1600-0625.2003.00124.x
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Moriwaki, S., Kanda, F., Hayashi, M., Yamashita, D., Sakai, Y., Nishigori, C., & Xeroderma pigmentosum clinical practice guidelines revision committee (2017). Xeroderma pigmentosum clinical practice guidelines. The Journal of dermatology, 44(10), 1087–1096. https://doi.org/10.1111/1346-8138.13907
