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Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early-onset dementia.
Soares IFZ, Christofolini DM, Silva LG, Feder D, de Siqueira Carvalho AA. Soares IFZ, et al. Mol Genet Genomic Med. 2020 Nov;8(11):e1491. doi: 10.1002/mgg3.1491. Epub 2020 Sep 16. Mol Genet Genomic Med. 2020. PMID: 32935933 Free PMC article.
These defects lead to a propensity to develop skin cancer at early ages as a hallmark, and progressive neurological degeneration can be observed in around 25% of patients. Eight clinically heterogeneous groups have been identified so far (XPA to XPG and XPV). Xeroderma …
These defects lead to a propensity to develop skin cancer at early ages as a hallmark, and progressive neurological degeneration can be o …
Rare exon 10 deletion in POLH gene in a family with xeroderma pigmentosum variant correlating with protein expression by immunohistochemistry.
Borroni RG, Diegoli M, Grasso M, Concardi M, Agozzino M, Vignini M, Arbustini E. Borroni RG, et al. G Ital Dermatol Venereol. 2020 Jun;155(3):349-354. doi: 10.23736/S0392-0488.16.05158-0. G Ital Dermatol Venereol. 2020. PMID: 32635709
The disease gene is POLH, which encodes polymerase eta (pol eta) allowing translesion synthesis in regions of DNA damage. We observed an Italian family presenting with photosensitivity, freckling since childhood and multiple skin cancers. Complete sequence analysis of XPA, …
The disease gene is POLH, which encodes polymerase eta (pol eta) allowing translesion synthesis in regions of DNA damage. We observed …