{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T19:25:28Z","timestamp":1783797928664,"version":"3.55.0"},"reference-count":53,"publisher":"Oxford University Press (OUP)","issue":"14","license":[{"start":{"date-parts":[[2022,2,18]],"date-time":"2022-02-18T00:00:00Z","timestamp":1645142400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,7,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Clonal hematopoiesis because of somatic mutations in hematopoietic stem\/progenitor cells is an age-related phenomenon and commonly observed when sequencing blood DNA in elderly individuals. Several genes that are implicated in clonal hematopoiesis are also associated with Mendelian disorders when mutated in the germline, potentially leading to variant misinterpretation. We performed a literature search to identify genes associated with age-related clonal hematopoiesis followed by an OMIM query to identify the subset of genes in which germline variants are associated with Mendelian disorders. We retrospectively screened for diagnostic cases in which the presence of age-related clonal hematopoiesis confounded exome sequencing data interpretation. We found 58 genes in which somatic mutations are implicated in clonal hematopoiesis, while germline variants in the same genes are associated with Mendelian (mostly neurodevelopmental) disorders. Using five selected cases of individuals with suspected monogenic disorders, we illustrate how clonal hematopoiesis in either variant databases or exome sequencing datasets poses a pitfall, potentially leading to variant misclassification and erroneous conclusions regarding gene\u2013disease associations.<\/jats:p>","DOI":"10.1093\/hmg\/ddac034","type":"journal-article","created":{"date-parts":[[2022,2,14]],"date-time":"2022-02-14T20:23:02Z","timestamp":1644870182000},"page":"2386-2395","source":"Crossref","is-referenced-by-count":13,"title":["Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders"],"prefix":"10.1093","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5183-780X","authenticated-orcid":false,"given":"Theresa","family":"Brunet","sequence":"first","affiliation":[{"name":"Institute of Human Genetics , Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen , Neuherberg 85764, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Berutti","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics , Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen , Neuherberg 85764, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4258-4986","authenticated-orcid":false,"given":"Veronika","family":"Dill","sequence":"additional","affiliation":[{"name":"Department of Medicine III , Technical University of Munich, Klinikum rechts der Isar, 81675 Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith S","family":"Hecker","sequence":"additional","affiliation":[{"name":"Department of Medicine III , Technical University of Munich, Klinikum rechts der Isar, 81675 Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Choukair","sequence":"additional","affiliation":[{"name":"Division of Paediatric Endocrinology and Diabetology, University Children's Hospital , 69120 Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Andres","sequence":"additional","affiliation":[{"name":"Center of Human Genetics and Laboratory Diagnostics , 82152 Martinsried, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus","family":"Deschauer","sequence":"additional","affiliation":[{"name":"Department of Neurology, Technical University of Munich, School of Medicine , 81675 Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janine","family":"Diehl-Schmid","sequence":"additional","affiliation":[{"name":"Technical University of Munich , School of Medicine, Department of Psychiatry and Psychotherapy, 81675 Munich, Germany"},{"name":"Munich Cluster for Systems Neurology (SyNergy), 81377 Munich , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Krenn","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics , Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany"},{"name":"Department of Neurology, Medical University of Vienna , 1090 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gertrud","family":"Eckstein","sequence":"additional","affiliation":[{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen , Neuherberg 85764, Germany"},{"name":"Core Facility Genomics , Helmholtz Center Munich, Neuherberg 85764, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Graf","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics , Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Gasser","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Diseases , Hertie Institute for Clinical Brain Research, , 72076 T\u00fcbingen, Germany"},{"name":"University of T\u00fcbingen , Hertie Institute for Clinical Brain Research, , 72076 T\u00fcbingen, Germany"},{"name":"German Center for Neurodegenerative Diseases (DZNE), 72076 T\u00fcbingen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim M","family":"Strom","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics , Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Hoefele","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics , Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina S","family":"G\u00f6tze","sequence":"additional","affiliation":[{"name":"Department of Medicine III , Technical University of Munich, Klinikum rechts der Isar, 81675 Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Meitinger","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics , Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4454-8823","authenticated-orcid":false,"given":"Matias","family":"Wagner","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics , Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany"},{"name":"Institute of Neurogenomics, Helmholtz 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Hematol."},{"key":"2022072316290007700_ref2","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1038\/nrc.2016.112","article-title":"The genetics of myelodysplastic syndrome: from clonal haematopoiesis to secondary leukaemia","volume":"17","author":"Sperling","year":"2017","journal-title":"Nat. Rev. Cancer"},{"key":"2022072316290007700_ref3","doi-asserted-by":"crossref","first-page":"2488","DOI":"10.1056\/NEJMoa1408617","article-title":"Age-related clonal hematopoiesis associated with adverse outcomes","volume":"371","author":"Jaiswal","year":"2014","journal-title":"N. Engl. J. Med."},{"key":"2022072316290007700_ref4","doi-asserted-by":"crossref","first-page":"2477","DOI":"10.1056\/NEJMoa1409405","article-title":"Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence","volume":"371","author":"Genovese","year":"2014","journal-title":"N. Engl. J. 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