Xeroderma Pigmentosum (XP) is a rare autosomal recessive disorder characterized by photosensitivity with easy skin burning following minimal sun exposure, pigmentary changes, premature skin aging and predisposition to malignant tumor development. These features result from a defect in DNA repair mechanisms after exposure to ultraviolet (UV) radiation. In addition to cutaneous complications, patients are prone to suffer from eye conditions, neurodegenerative processes and central nervous system tumors. Less than 40% of patients survive beyond age 20 years.
The Igenomix Xeroderma Pigmentosum Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of persistent sunburns ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The clinical utility of this panel is:
|
GENE |
OMIM DISEASES |
INHERITANCE* |
% GENE COVERAGE (20X) |
HGMD** |
|
DDB2 |
Xeroderma Pigmentosum, |
AR |
100 |
17 of 17 |
|
ERCC1 |
Cerebrooculofacioskeletal |
AR |
93.12 |
6 of 6 |
|
ERCC2 |
Cerebrooculofacioskeletal |
AR |
100 |
102 of 102 |
|
ERCC3 |
Photosensitive Trichothiodystrophy, |
AR |
99.98 |
24 of 24 |
|
ERCC4 |
Fanconi Anemia Complementation |
AR |
99.68 |
69 of 72 |
|
ERCC5 |
Cerebrooculofacioskeletal |
AR |
99.94 |
58 of 58 |
|
POLH |
Xeroderma |
AR |
99.49 |
73 of 76 |
|
XPA |
Xeroderma |
AR |
99.91 |
49 of 49 |
|
XPC |
Xeroderma |
AR |
99.83 |
86 of 87 |
* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance
** HGMD: Number of clinically relevant mutations according to 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
Lehmann, A. R., McGibbon, D., & Stefanini, M. (2011). Xeroderma pigmentosum. Orphanet journal of rare diseases, 6, 70. https://doi.org/10.1186/1750-1172-6-70
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
