{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:46:49Z","timestamp":1787014009081,"version":"build-2736575974"},"reference-count":17,"publisher":"Wiley","issue":"5-6","license":[{"start":{"date-parts":[[2022,3,11]],"date-time":"2022-03-11T00:00:00Z","timestamp":1646956800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Bloom syndrome (BS) is an autosomal recessive disorder with characteristic clinical features of primary microcephaly, growth deficiency, cancer predisposition, and immunodeficiency. Here, we report the clinical and molecular findings of eight patients from six families diagnosed with BS. We identified causative pathogenic variants in all families including three different variants in\n                    <jats:italic>BLM<\/jats:italic>\n                    and one variant in\n                    <jats:italic>RMI1<\/jats:italic>\n                    . The homozygous c.581_582delTT;p.Phe194* and c.3164G&gt;C;p.Cys1055Ser variants in\n                    <jats:italic>BLM<\/jats:italic>\n                    have already been reported in BS patients, while the c.572_573delGA;p.Arg191Lysfs*4 variant is novel. Additionally, we present the detailed clinical characteristics of two cases with BS in which we previously identified the biallelic loss\u2010of\u2010function variant c.1255_1259delAAGAA;p.Lys419Leufs*5 in\n                    <jats:italic>RMI1<\/jats:italic>\n                    . All BS patients had primary microcephaly, intrauterine growth delay, and short stature, presenting the phenotypic hallmarks of BS. However, skin lesions and upper airway infections were observed only in some of the patients. Overall, patients with pathogenic\n                    <jats:italic>BLM<\/jats:italic>\n                    variants had a more severe BS phenotype compared to patients carrying the pathogenic variants in\n                    <jats:italic>RMI1<\/jats:italic>\n                    , especially in terms of immunodeficiency, which should be considered as one of the most important phenotypic characteristics of BS.\n                  <\/jats:p>","DOI":"10.1111\/cge.14125","type":"journal-article","created":{"date-parts":[[2022,2,26]],"date-time":"2022-02-26T09:02:41Z","timestamp":1645866161000},"page":"559-564","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Phenotypic spectrum of\n                    <i>\n                      <scp>BLM<\/scp>\n                      \u2010\n                    <\/i>\n                    and\n                    <scp>\n                      <i>RMI1<\/i>\n                    <\/scp>\n                    \u2010related Bloom syndrome"],"prefix":"10.1111","volume":"101","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7583-0872","authenticated-orcid":false,"given":"Ipek Ilgin","family":"G\u00f6nenc","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nursel H.","family":"Elcioglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Marmara University Medical School  Istanbul Turkey"},{"name":"Eastern Mediterranean University School of Medicine  Cyprus Mersin 10 Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0901-376X","authenticated-orcid":false,"given":"Carolina","family":"Martinez Grijalva","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seda","family":"Aras","sequence":"additional","affiliation":[{"name":"Department of Pediatric Haematology and Oncology Marmara University Medical School  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Gro\u00dfmann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inka","family":"Praulich","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janine","family":"Altm\u00fcller","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG) University of Cologne  Cologne Germany"},{"name":"Berlin Institute of Health at Charit\u00e9 \u2010 Universit\u00e4tsmedizin Berlin Core Facility Genomics  Berlin Germany"},{"name":"Max Delbr\u00fcck Center for Molecular Medicine in the Helmholtz Association (MDC)  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silke","family":"Kaulfu\u00df","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Li","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"N\u00fcrnberg","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG) University of Cologne  Cologne Germany"},{"name":"Center for Molecular Medicine Cologne (CMMC) University of Cologne, Faculty of Medicine, University Hospital Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Burfeind","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2777-0198","authenticated-orcid":false,"given":"G\u00f6khan","family":"Yigit","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"},{"name":"German Center for Cardiovascular Research (DZHK), partner site G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2589-0364","authenticated-orcid":false,"given":"Bernd","family":"Wollnik","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"},{"name":"German Center for Cardiovascular Research (DZHK), partner site G\u00f6ttingen  G\u00f6ttingen Germany"},{"name":"Cluster of Excellence \u201cMultiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells\u201d (MBExC) University of G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,3,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792\u2010199311000\u201000003"},{"issue":"2","key":"e_1_2_9_3_1","first-page":"196","article-title":"Bloom's syndrome. I. Genetical and clinical observations in the first twenty\u2010seven patients","volume":"21","author":"German J","year":"1969","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20501"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/978\u20101\u20104614\u20105037\u20105_8"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc2682"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000452082"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.71.11.4508"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C600051200"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0508295103"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1725108"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.49.30611"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi0018640"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.07.001"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006483"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.2007.0119"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1954.02050100756008"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.emboj.7600622"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14125","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.14125","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14125","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T13:49:49Z","timestamp":1692971389000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14125"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,11]]},"references-count":17,"journal-issue":{"issue":"5-6","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["10.1111\/cge.14125"],"URL":"https:\/\/doi.org\/10.1111\/cge.14125","archive":["Portico"],"relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2021.11.02.21265560","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,11]]},"assertion":[{"value":"2021-12-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}