{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T00:10:03Z","timestamp":1767139803895,"version":"3.45.0"},"reference-count":16,"publisher":"Georg Thieme Verlag KG","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Klin Padiatr"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Background Xeroderma pigmentosum (XP) is a rare recessively inherited\n                    disorder that presents clinical and genetic heterogeneity. Mutations in eight\n                    genes, of which seven are involved in nucleotide excision repair (NER) pathway\n                    have been reported to cause the XP.<\/jats:p>\n                  <jats:p>Methods and Results Three large consanguineous families of Pakistani origin\n                    displaying typical clinical hallmarks of XP were evaluated at clinical and\n                    molecular level. Homozygosity mapping using microsatellite markers established\n                    linkage of the families to XPC gene on chromosome 3p25.1. Sanger sequencing of\n                    the XPC gene identified a novel homozygous single bp deletion [NM_004628.5;\n                    c.1934del; p.(Pro645Leufs*5)] and two previously reported mutations that\n                    included a nonsense [c.1243\u2009C&gt;T; p.(Arg415*)] and a\n                    splice acceptor site (c.2251\u20131\u2009G&gt;C), all segregating\n                    with the disease phenotypes in the families.<\/jats:p>\n                  <jats:p>Conclusion This report has extended the spectrum of mutations in the XPC\n                    gene and will also facilitate in diagnosis of XP and counselling of families\n                    inheriting it, which is the only inevitable tool for preventing the disease\n                    occurrence in future generations.<\/jats:p>","DOI":"10.1055\/a-1552-3788","type":"journal-article","created":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T19:16:56Z","timestamp":1632165416000},"page":"123-129","source":"Crossref","is-referenced-by-count":2,"title":["Loss of Function Variants in the XPC Causes Severe Xeroderma\n                    Pigmentosum in Three Large Consanguineous\n                    Families"],"prefix":"10.1055","volume":"234","author":[{"given":"Warda","family":"Nawal","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Quaid-i-Azam University, Islamabad,\n                    Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asmat","family":"Ullah","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Quaid-i-Azam University, Islamabad,\n                    Pakistan"},{"name":"Novo Nordisk Foundation Center for Basic Metabolic Research, Section of\n                    Metabolic Genetics, University of Copenhagen Faculty of Health and Medical\n                    Sciences, Kobenhavn, Denmark"},{"name":"Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical\n                    University, Islamabad, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ubaid","family":"Ullah","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Hazara University, Mansehra,\n                    Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanza","family":"Farrakh","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Quaid-i-Azam University, Islamabad,\n                    Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farooq","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Chemistry, Women University Swabi Swabi,\n                    Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hammal","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Quaid-i-Azam University, Islamabad,\n                    Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gul Saeed","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Quaid-i-Azam University, Islamabad,\n                    Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bushra","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Abdul Wali Khan University, Mardan,\n                    Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Ansar","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Quaid-i-Azam University, Islamabad,\n                    Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6842-3558","authenticated-orcid":false,"given":"Umm-e-","family":"Kalsoom","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Hazara University, Mansehra,\n                    Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wasim","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Quaid-i-Azam University, Islamabad,\n                    Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2021,9,20]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1002\/mgg3.1060","article-title":"Identification of a novel protein truncating mutation p.Asp98* in XPC\n                    associated with xeroderma pigmentosum in a consanguineous Pakistani family","volume":"8","author":"M Z Ali","year":"2020","journal-title":"Mol Genet Genomic Med"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1136\/jmg.2010.083022","article-title":"Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up\n                    characterizes the role of DNA repair","volume":"48","author":"P T Bradford","year":"2011","journal-title":"J Med Genet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/j.dnarep.2011.03.005","article-title":"A new XPC gene splicing mutation has led to the highest worldwide prevalence of\n                    xeroderma pigmentosum in black Mahori patients","volume":"10","author":"F Cartault","year":"2009","journal-title":"DNA Repair"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.mrfmmm.2014.08.007","article-title":"DNA damage and gene therapy of xeroderma pigmentosum, a human DNA\n                    repair-deficient disease","volume":"776","author":"A Dupuy","year":"2015","journal-title":"Mutat Res"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1111\/jdv.14717","article-title":"Clinical and genetic characteristics of xeroderma pigmentosum in Nepal. J","volume":"32","author":"P Espi","year":"2018","journal-title":"Eur Acad Dermatol and Venereol"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1111\/cga.12281","article-title":"XPC gene mutations in families with xeroderma pigmentosum from Pakistan;\n                    prevalent founder effect","volume":"59","author":"A Ijaz","year":"2019","journal-title":"Congenit Anom (Kyoto)"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.dnarep.2008.01.014","article-title":"Incidence of DNA repair deficiency disorders in western Europe: xeroderma\n                    pigmentosum, Cockayne syndrome and trichothiodystrophy","volume":"7","author":"W J Kleijer","year":"2008","journal-title":"DNA Repair (Amst)"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1186\/1750-1172-6-70","article-title":"Xeroderma pigmentosum","volume":"6","author":"A R Lehmann","year":"2011","journal-title":"Orphanet J Rare Dis"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"17545","DOI":"10.1073\/pnas.1004339107","article-title":"Strand-and site-specific DNA lesion demarcation by the xeroderma pigmentosum\n                    group D helicase","volume":"107","author":"N Mathieu","year":"2010","journal-title":"Proc Natl Acadm Sci USA"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1007\/s00018-015-2075-z","article-title":"Xeroderma pigmentosum group C sensor: unprecedented recognition strategy and\n                    tight spatiotemporal regulation","volume":"73","author":"M R Puumalainen","year":"2016","journal-title":"Cell Mol Life Sci"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"12609","DOI":"10.1101\/cshperspect.a012609","article-title":"Nucleotide excision repair in eukaryotes","volume":"5","author":"O D Scharer","year":"2013","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1016\/j.dnarep.2013.08.013","article-title":"Xeroderma pigmentosum complementation group C protein (XPC) serves as a general\n                    sensor of damaged","volume":"12","author":"S M Shell","year":"2013","journal-title":"DNA. DNA Repair (Amst)"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/S0300-9084(01)01358-X","article-title":"The genetics of the hereditary xeroderma pigmentosum syndrome","volume":"84","author":"A Stary","year":"2002","journal-title":"Biochimie"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1016\/j.molcel.2009.09.035","article-title":"Two-step recognition of DNA damage for mammalian nucleotide excision repair:\n                    directional binding of the XPC complex and DNA strand scanning","volume":"36","author":"K Sugasawa","year":"2009","journal-title":"Mol Cell"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1111\/ced.12457","article-title":"A novel deletion mutation in the DSG4 gene underlies autosomal recessive\n                    hypotrichosis with variable phenotype in two unrelated consanguineous\n                    families","volume":"40","author":"A Ullah","year":"2015","journal-title":"Clin Exp Dermatol"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1093\/nar\/gkv1157","volume":"44","author":"A Yates","year":"2016","journal-title":"Nucl Acids Res"}],"container-title":["Klinische P\u00e4diatrie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-1552-3788.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T11:58:10Z","timestamp":1764071890000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-1552-3788"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,20]]},"references-count":16,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2022,5,17]]},"published-print":{"date-parts":[[2022,5]]}},"URL":"https:\/\/doi.org\/10.1055\/a-1552-3788","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0300-8630","1439-3824"],"issn-type":[{"type":"print","value":"0300-8630"},{"type":"electronic","value":"1439-3824"}],"subject":[],"published":{"date-parts":[[2021,9,20]]}}}