{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T07:05:14Z","timestamp":1788505514846,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,12,2]],"date-time":"2023-12-02T00:00:00Z","timestamp":1701475200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant disease, although 10%\u201330% of cases are sporadic. However, this percentage may include truly de novo patients (carrying a reduced\n                    <jats:italic>D4Z4<\/jats:italic>\n                    allele that is not present in either of the parents) and patients with apparently sporadic disease resulting from mosaicism, non\u2010penetrance, or complex genetic situations in either patients or parents. In this study, we characterized the\n                    <jats:italic>D4Z4<\/jats:italic>\n                    Reduced Alleles (DRA) and evaluated the frequency of truly de novo cases in FSHD1 in a cohort of DNA samples received consecutively for FSHD\u2010diagnostic from 100 Italian families. The\n                    <jats:italic>D4Z4<\/jats:italic>\n                    testing revealed that 60 families reported a DRA compatible with FSHD1 (1\u201310\u2009RU). The DRA co\u2010segregated with the disease in most cases. Five families with truly de novo cases were identified, suggesting that this condition may be slightly lower (8%) than previously reported. In addition,\n                    <jats:italic>D4Z4<\/jats:italic>\n                    characterization in the investigated families showed 4% of mosaic cases and 2% with translocations. This study further highlighted the importance of performing family studies for clarifying apparently sporadic FSHD cases, with significant implications for genetic counseling, diagnosis, clinical management, and procreative choices for patients and families.\n                  <\/jats:p>","DOI":"10.1111\/cge.14466","type":"journal-article","created":{"date-parts":[[2023,12,2]],"date-time":"2023-12-02T14:44:42Z","timestamp":1701528282000},"page":"335-339","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Characterization of\n                    <i>D4Z4<\/i>\n                    alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (\n                    <scp>FSHD<\/scp>\n                    ) in a cohort of Italian families"],"prefix":"10.1111","volume":"105","author":[{"given":"Claudia","family":"Strafella","sequence":"first","affiliation":[{"name":"Genomic Medicine Laboratory UILDM IRCCS Santa Lucia Foundation  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Colantoni","sequence":"additional","affiliation":[{"name":"Genomic Medicine Laboratory UILDM IRCCS Santa Lucia Foundation  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenica","family":"Megalizzi","sequence":"additional","affiliation":[{"name":"Genomic Medicine Laboratory UILDM IRCCS Santa Lucia Foundation  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Trastulli","sequence":"additional","affiliation":[{"name":"Genomic Medicine Laboratory UILDM IRCCS Santa Lucia Foundation  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma Proietti","family":"Piorgo","sequence":"additional","affiliation":[{"name":"Genomic Medicine Laboratory UILDM IRCCS Santa Lucia Foundation  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guido","family":"Primiano","sequence":"additional","affiliation":[{"name":"Neurofisiopathology Unit Fondazione Policlinico Universitario Agostino Gemelli IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Sancricca","sequence":"additional","affiliation":[{"name":"Neurofisiopathology Unit Fondazione Policlinico Universitario Agostino Gemelli IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Ricci","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Pisa  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Siciliano","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Pisa  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Caltagirone","sequence":"additional","affiliation":[{"name":"Department of Clinical and Behavioral Neurology IRCCS Fondazione Santa Lucia  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimiliano","family":"Filosto","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Sciences University of Brescia, NeMO\u2010Brescia Clinical Center for Neuromuscular Diseases  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Tasca","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre Newcastle University and Newcastle Hospitals NHS Foundation Trusts  Newcastle Upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enzo","family":"Ricci","sequence":"additional","affiliation":[{"name":"Unit\u00e0 Operativa Complessa di Neurologia Fondazione Policlinico Universitario A. Gemelli IRCCS  Rome Italy"},{"name":"Istituto di Neurologia Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaella","family":"Cascella","sequence":"additional","affiliation":[{"name":"Genomic Medicine Laboratory UILDM IRCCS Santa Lucia Foundation  Rome Italy"},{"name":"Department of Biomedical Sciences Catholic University Our Lady of Good Counsel  Tirana Albania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emiliano","family":"Giardina","sequence":"additional","affiliation":[{"name":"Genomic Medicine Laboratory UILDM IRCCS Santa Lucia Foundation  Rome Italy"},{"name":"Department of Biomedicine and Prevention, Medical Genetics Laboratory Tor Vergata University  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,12,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01158.x"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.035"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000009617"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz239"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.03.013"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2454"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000797"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/302730"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.09.004"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-1110-1"},{"key":"e_1_2_9_12_1","first-page":"179","article-title":"Risk assessment and genetic counseling in families with Duchenne muscular dystrophy","volume":"31","author":"Grimm T","year":"2012","journal-title":"Acta Myol"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen-2015-007798"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20106"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-019-00575-4"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.5772\/28864"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000007456"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt226"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2003.07.001"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2020.4040"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI89401"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14466","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T20:47:55Z","timestamp":1706820475000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14466"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,2]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1111\/cge.14466"],"URL":"https:\/\/doi.org\/10.1111\/cge.14466","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,2]]},"assertion":[{"value":"2023-10-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}