{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:39:18Z","timestamp":1760150358804,"version":"build-2065373602"},"reference-count":14,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T00:00:00Z","timestamp":1700524800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Assistance Publique-H\u00f4pitaux de PARIS (APHP) and the University of Versailles-Saint-Quentin (UVSQ)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Variant identification underlying inherited dysfibrinogenemia quite exceptionally fails. We report on two dysfibrinogenemia cases whose underlying DNA variant could not be identified by Sanger analysis. These failures result from two distinct mechanisms. The first case involved raw signal overcorrection by a built-in software, and the second constituted the first description of mosaicism for one of the fibrinogen genes. This mosaicism was subsequently identified by next-generation sequencing reanalysis of the sample.<\/jats:p>","DOI":"10.3390\/ijms242316551","type":"journal-article","created":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T01:48:45Z","timestamp":1700531325000},"page":"16551","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Absence of Missense Variant Detection in Inherited Dysfibrinogenemia May Result from a Poor Raw Data Analysis Algorithm or Mosaicism"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8091-9882","authenticated-orcid":false,"given":"Philippe","family":"De Mazancourt","sequence":"first","affiliation":[{"name":"UMR1179, Universit\u00e9 de Versailles-Saint-Quentin, 1 Rue de la Source de la Bi\u00e8vre, 78180 Montigny le Bretonneux, France"},{"name":"Laboratoire de Biologie Mol\u00e9culaire, H\u00f4pital A. Par\u00e9, GHU APHP Paris-Saclay, 9 Avenue Charles de Gaulle, 92100 Boulogne-Billancourt, France"},{"name":"D\u00e9partement d\u2019H\u00e9matologie, H\u00f4pital Europ\u00e9en Georges Pompidou, GHU AP-HP Centre\u2014Universit\u00e9 Paris Cit\u00e9, 20 Rue Leblanc, 75015 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth","family":"Mazoyer","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie Biologique, GHU APHP Paris-Seine-St-Denis, Site Avicenne, 125 Rue de Stalingrad, 93000 Bobigny, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myriam","family":"Hormi","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie Biologique, GHU APHP Paris-Seine-St-Denis, Site Avicenne, 125 Rue de Stalingrad, 93000 Bobigny, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Hanss","sequence":"additional","affiliation":[{"name":"Laboratoire d\u2019H\u00e9matologie, Centre de Biologie et Pathologie Est, CHU de Lyon HCL\u2014GH Est, 59 Boulevard Pinel, 69677 Bron, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,11,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"284","DOI":"10.3324\/haematol.2019.236901","article-title":"Fibrin(ogen) in human disease: Both friend and foe","volume":"105","author":"Vilar","year":"2020","journal-title":"Haematologica"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1038\/329554a0","article-title":"Germline mosaicism and Duchenne muscular dystrophy mutations","volume":"329","author":"Bakker","year":"1987","journal-title":"Nature"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1097\/GIM.0b013e318202e0f6","article-title":"Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance","volume":"13","author":"Pyott","year":"2011","journal-title":"Genet. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1111\/j.1365-2516.2006.01397.x","article-title":"Prevalence of sporadic and familial haemophilia","volume":"13","author":"Kasper","year":"2007","journal-title":"Haemophilia"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1046\/j.1365-2141.1999.01631.x","article-title":"Origin of mutation in sporadic cases of haemophilia A","volume":"106","author":"Ljung","year":"1999","journal-title":"Br. J. Haematol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1111\/hae.13975","article-title":"Genetic mosaicism in haemophilia: A practical review to help evaluate the risk of transmitting the disease","volume":"26","author":"Lannoy","year":"2020","journal-title":"Haemophilia"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1086\/321285","article-title":"Somatic mosaicism in hemophilia A: A fairly common event","volume":"69","author":"Leuer","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1111\/cge.12502","article-title":"Detecting somatic mosaicism: Considerations and clinical implications","volume":"87","author":"Cohen","year":"2015","journal-title":"Clin. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1111\/j.1749-6632.2001.tb03495.x","article-title":"A database for human fibrinogen variants","volume":"936","author":"Hanss","year":"2001","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1055\/s-0041-1742170","article-title":"Mutations Accounting for Congenital Fibrinogen Disorders: An Update","volume":"48","author":"Richard","year":"2022","journal-title":"Semin. Thromb. Hemost."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/nrg3424","article-title":"A genomic view of mosaicism and human disease","volume":"14","author":"Biesecker","year":"2013","journal-title":"Nat. Rev. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.tig.2015.03.013","article-title":"Somatic Mosaicism: Implications for Disease and Transmission Genetics","volume":"31","author":"Campbell","year":"2015","journal-title":"Trends Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1146\/annurev-genet-041720-093403","article-title":"Mosaicism in Human Health and Disease","volume":"54","author":"Thorpe","year":"2020","journal-title":"Annu. Rev. Genet."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"2347","DOI":"10.1111\/j.1538-7836.2005.01580.x","article-title":"Four cases of hypofibrinogenemia associated with four novel mutations","volume":"3","author":"Hanss","year":"2005","journal-title":"J. Thromb. Haemost."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/23\/16551\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T21:25:33Z","timestamp":1760131533000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/23\/16551"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,21]]},"references-count":14,"journal-issue":{"issue":"23","published-online":{"date-parts":[[2023,12]]}},"alternative-id":["ijms242316551"],"URL":"https:\/\/doi.org\/10.3390\/ijms242316551","relation":{},"ISSN":["1422-0067"],"issn-type":[{"type":"electronic","value":"1422-0067"}],"subject":[],"published":{"date-parts":[[2023,11,21]]}}}