{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:58Z","timestamp":1753869718295,"version":"3.41.2"},"reference-count":8,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,2,25]],"date-time":"2022-02-25T00:00:00Z","timestamp":1645747200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100018554","name":"Science and Technology Program of Gansu Province","doi-asserted-by":"publisher","award":["21JR7RA680"],"award-info":[{"award-number":["21JR7RA680"]}],"id":[{"id":"10.13039\/501100018554","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100017702","name":"Innovation and Entrepreneurship Talent Project of Lanzhou","doi-asserted-by":"publisher","award":["2018\u2010RC\u201095"],"award-info":[{"award-number":["2018\u2010RC\u201095"]}],"id":[{"id":"10.13039\/501100017702","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Beckwith\u2013Wiedemann syndrome (BWS) is an inherited disorder affecting 1 in 10,500 to 13,700 newborns worldwide. The disease is caused in a vast majority of patients by a molecular defect in the imprinted chromosome 11p15.5. Hereditary spherocytosis (HS) is a form of hemolytic anemia associated with a variety of mutations leading to congenital red blood cell (RBC) membrane defects. The prevalence of HS varies by geographic regions around the world, ranging from 1.2 in 100,000 in Asia to 1 in 2000 in Northern Europe.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and Results<\/jats:title><jats:p>Herein, we report for the first time a rare case diagnosed with co\u2010existing BWS and HS. Based on the classical presentations, including macroglossia, hepatosplenomegaly, and macrosomia, the patient was first suspected with BWS. MS\u2010MLPA confirmed the BWS diagnosis based on hypomethylation of maternal 11p15.5 (<jats:italic>KCNQ1OT1<\/jats:italic>), but no copy number variations in chromosome 11 was detected by CNV\u2010seq. Nevertheless, to scrutinize molecular causes of other symptoms of the patient, including anemia, hyperbilirubinemia, and jaundice, a whole exome sequencing (WES) was performed. We identified a novel and de novo mutation in <jats:italic>ANK1<\/jats:italic> gene (c.520delC). This frameshift mutation of <jats:italic>ANK1<\/jats:italic> gene results in a truncated protein without important functional domains and impaired membrane stability and structure of the resultant red blood cells (RBCs), leading to a definitive diagnosis of HS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The present case demonstrated that multiple genetic and epigenetic aberrations might co\u2010exist in the complex genetic diseases. For such kind of complicated cases, the different types of molecular tests, such as WES and MS\u2010MLPA, should be utilized in combination to reveal independent causal molecular events. The identifications from this study added new insights into the understanding of molecular mechanisms underlying the co\u2010existing HS and BWS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1903","type":"journal-article","created":{"date-parts":[[2022,2,25]],"date-time":"2022-02-25T12:10:01Z","timestamp":1645791001000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of a novel <scp>ANK1<\/scp> mutation in hereditary spherocytosis co\u2010existing with <scp>BWS<\/scp>"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7992-4596","authenticated-orcid":false,"given":"Qinghua","family":"Zhang","sequence":"first","affiliation":[{"name":"Gansu Province Medical Genetics Center Gansu Province Maternal and Child Health Care Hospital  Lanzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chuan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Gansu Province Medical Genetics Center Gansu Province Maternal and Child Health Care Hospital  Lanzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yupei","family":"Wang","sequence":"additional","affiliation":[{"name":"Gansu Province Medical Genetics Center Gansu Province Maternal and Child Health Care Hospital  Lanzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shengjv","family":"Hao","sequence":"additional","affiliation":[{"name":"Gansu Province Medical Genetics Center Gansu Province Maternal and Child Health Care Hospital  Lanzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jingyun","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Neonatal Intensive Care Unit Gansu Province Maternal and Child Health Care Hospital  Lanzhou 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Technology  Guangzhou China"},{"name":"Guangdong Lung Cancer Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, School of Medicine South China University of Technology  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liangyuan","family":"Deng","sequence":"additional","affiliation":[{"name":"The Laboratory of Computational Medicine and Systems Biology, School of Medicine South China University of Technology  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4089-6086","authenticated-orcid":false,"given":"Jun","family":"Hou","sequence":"additional","affiliation":[{"name":"The Laboratory of Computational Medicine and Systems Biology, School of Medicine South China University of Technology  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhaoyan","family":"Meng","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Gansu Province Maternal and Child Health Care Hospital  Lanzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,2,25]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-020-01161-4"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.21037\/atm.2018.07.35"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-90-481-9485-8_22"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.16126"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1358-4"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2019.00562"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.106"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1577"}],"container-title":["Molecular Genetics &amp; Genomic 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