Abstract
Xeroderma pigmentosum (XP) is a rare photosensitive syndrome, which is divided into eight complementation groups (XP-A to XP-G and XPV) and characterized by skin cancers diagnosed at early age. A family of seven members (age range between 5 and 47 years) with carriers of the novel nonsense mutation that causes XP-E type were included in the current study. DNA was isolated from peripheral blood samples of the proband, and cancer predisposition genes were sequenced with next-generation sequencing. The demographic features and the laboratory, clinical, and histopathological findings of patients were evaluated. In the proband, squamous cell carcinoma was first diagnosed in the right-eye cornea at the age of 13 years and then in the left-eye cornea at the age of 15 years. Later, the patient was diagnosed with basosquamous cell carcinoma on the dorsum of the nose at the age of 18 years. After genetic analysis, a novel nonsense c.1063C>T(p.Arg355Ter) pathogenic variation that causes XP-E type was detected as homozygous in the DDB2 gene of the proband and her siblings, 11 and 5 years of age, and as heterozygous in her parents and a 22-year-old brother. Because of the occurrence of early termination codon, truncated nonfunctional protei...Continue Reading
References
Dec 1, 1975·Mutation Research·K H KraemerD Bootsma
May 1, 1970·Mutation Research·D BootsmaF Pot
Jun 20, 1998·Molecular and Cellular Biology·V Rapić OtrinR D Wood
Sep 1, 1999·The Journal of Investigative Dermatology·T ItohM Yamaizumi
Apr 25, 2000·The Journal of Biological Chemistry·A F NicholsS Linn
Jan 2, 2003·DNA Repair·Jean Tang, Gilbert Chu
Jun 19, 2003·Human Molecular Genetics·Vesna Rapić-OtrinMiria Stefanini
Nov 2, 2005·Molecular and Cellular Biology·Gülnihal KulaksizAziz Sancar
Jun 24, 2008·Brain : a Journal of Neurology·Anu AnttinenReijo J Marttila
Nov 26, 2010·Journal of Medical Genetics·Porcia T BradfordKenneth H Kraemer
Nov 26, 2010·The Journal of Investigative Dermatology·Kyu-Seon OhKenneth H Kraemer
Apr 13, 2011·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Noopur GuptaRadhika Tandon
Jan 6, 2012·The Journal of Investigative Dermatology·John J DiGiovanna, Kenneth H Kraemer
Feb 1, 2013·Brain : a Journal of Neurology·Mariam B TotonchyCarmen C Brewer
Apr 23, 2013·Ophthalmology·Brian P BrooksKenneth H Kraemer
Jul 31, 2013·The British Journal of Dermatology·M SethiH Fassihi
Jan 15, 2014·Photodermatology, Photoimmunology & Photomedicine·Deborah TamuraKenneth H Kraemer
Feb 18, 2016·Proceedings of the National Academy of Sciences of the United States of America·Hiva FassihiAlan R Lehmann
Mar 16, 2016·Head and Neck Pathology·Jennifer O Black
Nov 25, 2017·Journal of Dermatological Science·Mariem Ben RekayaSonia Abdelhak
Sep 27, 2018·Biochimica Et Biophysica Acta. General Subjects·Bruno César FeltesHugo Verli
Dec 14, 2018·Neuro-ophthalmology·Anna M Gruener, Ana M S Morley