ArticlePloS one2014
Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 38 citations in OpenAlex.
- A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy.BioMed research international · 2014Trial
- Xeroderma Pigmentosum Monozygotic Twins: Same Mutation Divergent Clinical Outcomes.Human mutation · 2026Article
- Xeroderma pigmentosum associated with recurrent squamous and basal cell carcinoma: a case report from Nepal.Annals of medicine and surgery (2012) · 2025Article
- Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report.Journal of medical case reports · 2022Article
- A Pharmacogenomic Dissection of a Rosuvastatin-Induced Rhabdomyolysis Case Evokes the Polygenic Nature of Adverse Drug Reactions.Pharmacogenomics and personalized medicine · 2020Article
- Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum.Frontiers in genetics · 2019Article
- Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants.BMC medical genetics · 2018Article
- Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.Orphanet journal of rare diseases · 2016Article
- Success stories in genomic medicine from resource-limited countries.Human genomics · 2015Article
- Novel germline ERCC5 mutations identified in a xeroderma pigmentosum complementation group G pedigree.JAAD case reports · 2015Article
- DNA repair diseases: What do they tell us about cancer and aging?Genetics and molecular biology · 2014Review
- Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.PloS one · 2014Article
- Endocrine-therapy-resistant ESR1 variants revealed by genomic characterization of breast-cancer-derived xenografts.Cell reports · 2013Article
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by extreme sensitivity to actinic pigmentation changes in the skin and increased incidence of skin cancer. In some cases, patients are affected by neurological alterations. XP is caused by mutations in 8 distinct genes (XPA through XPG and XPV). The XP-V (variant) subtype of the disease results from mutations in a gene (XPV, also named POLH) which encodes for Polη, a member of the Y-DNA polymerase family. Although the presence and severity of skin and neurological dysfunctions differ between XP subtypes, there are overlapping clinical features among subtypes such that the sub-type cannot be deduced from the clinical features. In this study, in order to overcome this drawback, we undertook whole-exome sequencing in two XP sibs and their father. We identified a novel homozygous nonsense mutation (c.897T>G, p.Y299X) in POLH which causes the disease. Our results demonstrate that next generation sequencing is a powerful approach to rapid determination of XP genetic etiology.
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