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Complementation group C (<jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010C) is the most frequent group of <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> patients worldwide.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We analyzed seven <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010C patients clinically and molecular\u2010genetically applying: post\u2010<jats:styled-content style=\"fixed-case\">UV<\/jats:styled-content> cell survival (<jats:styled-content style=\"fixed-case\">MTT<\/jats:styled-content>\u2010assay), quantitative Real\u2010time <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>, sequencing on chromosomal as well as <jats:styled-content style=\"fixed-case\">cDNA<\/jats:styled-content> level, and <jats:italic>in silico<\/jats:italic> interpretation of sequencing data.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All cases displayed diminished post\u2010<jats:styled-content style=\"fixed-case\">UV<\/jats:styled-content> cell survival as well as reduced <jats:italic><jats:styled-content style=\"fixed-case\">XPC<\/jats:styled-content><\/jats:italic> <jats:styled-content style=\"fixed-case\">mRNA<\/jats:styled-content> levels. Five homozygous and two heterozygous disease causing mutations were identified. A large chromosomal deletion of ~5.8 kb identified in <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>174<jats:styled-content style=\"fixed-case\">MA<\/jats:styled-content> leads to an unique in frame deletion of <jats:italic><jats:styled-content style=\"fixed-case\">XPC<\/jats:styled-content><\/jats:italic> exon 2 and exon 3. <jats:italic>In silico<\/jats:italic> analysis revealed the deletion of 102 amino acids in the N\u2010terminal part of <jats:italic><jats:styled-content style=\"fixed-case\">XPC<\/jats:styled-content><\/jats:italic> while leaving the C\u2010terminal domain intact. The novel c.361delA mutation in <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>168<jats:styled-content style=\"fixed-case\">MA<\/jats:styled-content> leads to a frameshift in exon 3 resulting in a premature stop codon 27 codons downstream of the deleted adenine.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our analysis confirms that <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010C patients without increased sun sensitivity develop non\u2010melanoma skin cancers earlier than sun\u2010sensitive <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010C patients. Reduced cellular <jats:styled-content style=\"fixed-case\">mRNA<\/jats:styled-content> levels are characteristic for <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> complementation group C and <jats:styled-content style=\"fixed-case\">qRT<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content> represents a rapid diagnostic tool.<\/jats:p><\/jats:sec>","DOI":"10.1111\/phpp.12251","type":"journal-article","created":{"date-parts":[[2016,7,7]],"date-time":"2016-07-07T17:45:04Z","timestamp":1467913504000},"page":"276-283","source":"Crossref","is-referenced-by-count":5,"title":["A unique chromosomal in\u2010frame deletion identified among seven <scp>XP<\/scp>\u2010C patients"],"prefix":"10.1111","volume":"32","author":[{"given":"Steffen","family":"Schubert","sequence":"first","affiliation":[{"name":"Department of Dermatology, Venereology and Allergology University Medical Center G\u00f6ttingen G\u00f6ttingen 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