ArticleFrontiers in genetics2019
Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum.
Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- Xeroderma pigmentosum with multiple skin carcinoma and a homogenousThe Journal of international medical research · 2026Review
- Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report.Journal of medical case reports · 2022Article
- Xeroderma pigmentosum: an updated review.Drugs in context · 2022Review
- Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundXeroderma pigmentosum (XP) is a rare autosomal, recessive, inherited disease. XP patients exhibit high sensitivity to sunlight and increased incidence of skin cancer. The different XP subtypes, which are caused by mutations of eight distinct genes, show some specific clinical manifestations. XP variant (XPV) is caused by mutations in the gene encoding DNA polymerase eta ( CASE PRESENTATION: We report a family that included two XP patients whose parents were first cousins. The proband is a 36-year-old male who developed a large number of pigmented freckle-like lesions starting at 4 years of age; later, he displayed typical psoriasis manifestation, abnormal renal function and hyperglycaemia. He was suspected as suffering from dyschromatosis symmetrica hereditaria (DSH), but negative results were obtained in candidate gene analyses. Whole-exome sequencing was performed in four subjects, including the two patients and two controls, and a new pathogenic homozygous nonsense mutation (c.353dupA, p. Y118_V119delinsX) of the
conclusionA novel XPV pathogenic homozygous nonsense mutation in the
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Registered trials
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