{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:07Z","timestamp":1772160067495,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,4,5]],"date-time":"2021-04-05T00:00:00Z","timestamp":1617580800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["id. 21737"],"award-info":[{"award-number":["id. 21737"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Bi\u2010allelic inactivation of XPD protein, a nucleotide excision repair (NER) signaling pathway component encoded by\n                    <jats:italic>ERCC2<\/jats:italic>\n                    gene, has been associated with several defective DNA repair phenotypes, including xeroderma pigmentosum, photosensitive trichothiodystrophy, and cerebro\u2010oculo\u2010facio\u2010skeletal syndrome. We report a pediatric patient harboring two compound heterozygous variants in\n                    <jats:italic>ERCC2<\/jats:italic>\n                    gene, c.361\u20101G&gt;A and c.2125A&gt;C (p.Thr709Pro), affected by severe postnatal growth deficiency, microcephaly, facial dysmorphisms and pilocytic astrocytoma of the brainstem. Some of these features point to a DNA repair syndrome, and altogether delineate a phenotype differentiating from disorders known to be associated with\n                    <jats:italic>ERCC2<\/jats:italic>\n                    mutations. The DNA repair efficiency following UV irradiation in the proband's skin fibroblasts was defective indicating that the new set of\n                    <jats:italic>ERCC2<\/jats:italic>\n                    alleles impacts on NER efficiency. Sequencing analysis on tumor DNA did not reveal any somatic deleterious point variant in cancer\u2010related genes, while SNP\u2010array analysis disclosed a 2 Mb microduplication involving the 7q34 region, spanning from\n                    <jats:italic>KIAA1549<\/jats:italic>\n                    to\n                    <jats:italic>BRAF<\/jats:italic>\n                    , and resulting in the KIAA1549:BRAF fusion protein, a marker of pilocytic astrocytoma. In conclusion, this report expands the clinical and mutational spectrum of\n                    <jats:italic>ERCC2<\/jats:italic>\n                    \u2010related disorders.\n                  <\/jats:p>","DOI":"10.1111\/cge.13957","type":"journal-article","created":{"date-parts":[[2021,3,17]],"date-time":"2021-03-17T21:51:21Z","timestamp":1616017881000},"page":"842-848","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Expansion of the clinical and molecular spectrum of an\n                    <scp>XPD<\/scp>\n                    \u2010related disorder linked to biallelic mutations in\n                    <scp>\n                      <i>ERCC2<\/i>\n                    <\/scp>\n                    gene"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6543-6225","authenticated-orcid":false,"given":"Emanuele","family":"Agolini","sequence":"first","affiliation":[{"name":"Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Botta","sequence":"additional","affiliation":[{"name":"Institute of Molecular Genetics LL Cavalli Sforza\u2010CNR  Pavia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariachiara","family":"Lodi","sequence":"additional","affiliation":[{"name":"Department of Hematology\/Oncology, Gene and Cell Therapy Bambino Ges\u00f9 Children's Hospital, IRCSS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0205-9634","authenticated-orcid":false,"given":"Maria Cristina","family":"Digilio","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Bambino Ges\u00f9 Children's Hospital, IRCSS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Rinelli","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuele","family":"Bellacchio","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Bambino Ges\u00f9 Children's Hospital, IRCSS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viola","family":"Alesi","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiziana","family":"Nardo","sequence":"additional","affiliation":[{"name":"Institute of Molecular Genetics LL Cavalli Sforza\u2010CNR  Pavia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Zambruno","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Bambino Ges\u00f9 Children's Hospital, IRCSS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donata","family":"Orioli","sequence":"additional","affiliation":[{"name":"Institute of Molecular Genetics LL Cavalli Sforza\u2010CNR  Pavia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iside","family":"Alessi","sequence":"additional","affiliation":[{"name":"Department of Hematology\/Oncology, Gene and Cell Therapy Bambino Ges\u00f9 Children's Hospital, IRCSS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2017-4270","authenticated-orcid":false,"given":"Luigi","family":"Boccuto","sequence":"additional","affiliation":[{"name":"College of Behavioral, Social and Health Sciences, Clemson University  Clemson South Carolina USA"},{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabrina","family":"Rossi","sequence":"additional","affiliation":[{"name":"Pathology Department Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Carai","sequence":"additional","affiliation":[{"name":"Neurosurgery Unit, Department of Neurosciences and Neurorehabilitation Bambino Ges\u00f9 Children's Hospital, IRCSS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna Stefania","family":"Colafati","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit, Department of Imaging Bambino Ges\u00f9 Children's Hospital, IRCSS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonella","family":"Cacchione","sequence":"additional","affiliation":[{"name":"Department of Hematology\/Oncology, Gene and Cell Therapy Bambino Ges\u00f9 Children's Hospital, IRCSS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Bambino Ges\u00f9 Children's Hospital, IRCSS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Mastronuzzi","sequence":"additional","affiliation":[{"name":"Department of Hematology\/Oncology, Gene and Cell Therapy Bambino Ges\u00f9 Children's Hospital, IRCSS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,4,5]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0921-8777(00)00071-9"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.859501"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13545"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-011-0898-9"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-08-2097"},{"key":"e_1_2_10_7_1","first-page":"4","article-title":"Incidence of kiaa1549\u2010braf fusion gene in Egyptian pediatric low grade glioma","volume":"3","author":"Taha H","year":"2015","journal-title":"Clin Transl Med"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/302063"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-016-1545-1"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.3892\/ol.2015.2894"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13957","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13957","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13957","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T11:48:46Z","timestamp":1693568926000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13957"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,5]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["10.1111\/cge.13957"],"URL":"https:\/\/doi.org\/10.1111\/cge.13957","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13957\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13957\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13957\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13957\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13957\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13957\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13957\/v2\/review2","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4,5]]},"assertion":[{"value":"2020-11-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}