{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,29]],"date-time":"2024-08-29T21:49:54Z","timestamp":1724968194840},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,12,20]],"date-time":"2013-12-20T00:00:00Z","timestamp":1387497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"KSU","award":["00000"],"award-info":[{"award-number":["00000"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:p>An extremely rare pellagra\u2010like condition has been described, which was partially responsive to niacin and associated with a multisystem involvement. The condition was proposed to represent a novel autosomal recessive entity but the underlying mutation remained unknown for almost three decades. The objective of this study was to identify the causal mutation in the pellagra\u2010like condition and investigate the mechanism by which niacin confers clinical benefit. Autozygosity mapping and exome sequencing were used to identify the causal mutation, and comet assay on patient fibroblasts before and after niacin treatment to assess its effect on <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> damage. We identified a single disease locus that harbors a novel mutation in <jats:italic><jats:styled-content style=\"fixed-case\">ERCC5<\/jats:styled-content><\/jats:italic>, thus confirming that the condition is in fact xeroderma pigmentosum\/Cockayne syndrome (<jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">CS<\/jats:styled-content>) complex. Importantly, we also show that the previously described dermatological response to niacin is consistent with a dramatic protective effect against ultraviolet\u2010induced <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> damage in patient fibroblasts conferred by niacin treatment. Our findings show the power of exome sequencing in reassigning previously described novel clinical entities, and suggest a mechanism for the dermatological response to niacin in patients with <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">CS<\/jats:styled-content> complex. This raises interesting possibilities about the potential therapeutic use of niacin in XP.<\/jats:p>","DOI":"10.1111\/cge.12325","type":"journal-article","created":{"date-parts":[[2013,11,21]],"date-time":"2013-11-21T21:24:02Z","timestamp":1385069042000},"page":"56-61","source":"Crossref","is-referenced-by-count":13,"title":["Pellagra\u2010like condition is xeroderma pigmentosum\/Cockayne syndrome complex and niacin confers clinical benefit"],"prefix":"10.1111","volume":"87","author":[{"given":"H.","family":"Hijazi","sequence":"first","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.A.","family":"Salih","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.H.A.","family":"Hamad","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.H.","family":"Hassan","sequence":"additional","affiliation":[{"name":"Department of Radiology King Khalid University Hospital and College of Medicine, King Saud University Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.B.M.","family":"Salih","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Mafraq Hospital Abu Dhabi United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.A.","family":"Mohamed","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (Neurology), Sheikh Khalifa Medical City Abu Dhabi United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.M.","family":"Mukhtar","sequence":"additional","affiliation":[{"name":"Institute of Endemic Diseases, Faculty of 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