{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zamani GY"],"funding":["National Institute of Arthritis and Musculoskeletal and Skin Diseases","NIAMS NIH HHS"],"pagination":["543"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8955859"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["13(3)"],"pubmed_abstract":["Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by severe sensitivity of skin to sunlight and an increased risk of skin cancer. XP variant (XPV), a milder subtype, is caused by variants in the <i>POLH</i> gene. <i>POLH</i> encodes an error-prone DNA-polymerase eta (pol eta) which performs translesion synthesis past ultraviolet photoproducts. The current study documents the clinical and genetic investigations of two large consanguineous Pakistani families affected with XPV. In family 1, whole exome sequencing (WES) revealed a novel frameshift variant, c.1723dupG (p.(Val575Glyfs*4)), of <i>POLH</i>, which is predicted to cause frameshift and premature truncation of the encoded enzyme. Indeed, our ex vivo studies in HEK293T cells confirmed the truncatio"],"journal":["Genes"],"pubmed_title":["Identification of Frameshift Variants in <i>POLH</i> Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families."],"pmcid":["PMC8955859"],"funding_grant_id":["R01AR077563","R01 AR077563"],"pubmed_authors":["Zamani GY","Naeem M","Khan R","Karim N","Ahmed ZM"],"additional_accession":[]},"is_claimable":false,"name":"Identification of Frameshift Variants in <i>POLH</i> Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families.","description":"Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by severe sensitivity of skin to sunlight and an increased risk of skin cancer. XP variant (XPV), a milder subtype, is caused by variants in the <i>POLH</i> gene. <i>POLH</i> encodes an error-prone DNA-polymerase eta (pol eta) which performs translesion synthesis past ultraviolet photoproducts. The current study documents the clinical and genetic investigations of two large consanguineous Pakistani families affected with XPV. In family 1, whole exome sequencing (WES) revealed a novel frameshift variant, c.1723dupG (p.(Val575Glyfs*4)), of <i>POLH</i>, which is predicted to cause frameshift and premature truncation of the encoded enzyme. Indeed, our ex vivo studies in HEK293T cells confirmed the truncatio","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Mar","modification":"2025-04-04T09:10:03.489Z","creation":"2025-04-04T09:10:03.489Z"},"accession":"S-EPMC8955859","cross_references":{"pubmed":["35328096"],"doi":["10.3390/genes13030543"]}}