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Recent studies have demonstrated that patients with germline gain\u2010of\u2010function <jats:italic>SAMD9\/9L<\/jats:italic> variants and loss\u2010of\u2010function <jats:italic>GATA2<\/jats:italic> variants are prone to developing myelodysplastic syndrome (MDS) associated with \u22127. However, the prevalence of the genetic variants among paediatric haematologic disorders with \u22127 is unknown. The present study screened germline variants of <jats:italic>GATA2<\/jats:italic> and <jats:italic>SAMD9\/9L<\/jats:italic> in 25 patients with various types of paediatric haematological disorders associated with \u22127. The diagnoses of the 25 patients included MDS (<jats:italic>n<\/jats:italic>\u00a0=\u00a010), acute myeloid leukaemia (AML) and myeloid sarcomas (<jats:italic>n<\/jats:italic>\u00a0=\u00a09), juvenile myelomonocytic leukaemia (<jats:italic>n<\/jats:italic>\u00a0=\u00a03) and other disorders (<jats:italic>n<\/jats:italic>\u00a0=\u00a03). Seven patients with a germline pathogenic <jats:italic>GATA2<\/jats:italic> variant were found. For <jats:italic>SAMD9\/9L<\/jats:italic> screening, next\u2010generation sequencing was used to detect low\u2010abundance variants and found four novel germline variants. Functional analysis revealed that three out of the four variants showed growth\u2010restricting capacity <jats:italic>in vitro<\/jats:italic> and thus, were judged to be pathogenic. Cases with <jats:italic>GATA2<\/jats:italic> mutation tended to be older, compared to those with <jats:italic>SAMD9\/9L<\/jats:italic> mutations. In conclusion, <jats:italic>GATA2<\/jats:italic> and <jats:italic>SAMD9\/9L<\/jats:italic> were sequenced in 25 patients with paediatric haematologic disorders associated with \u22127, and 40% of them were found to have some pathogenic germline variants in the three genes.<\/jats:p>","DOI":"10.1111\/bjh.17006","type":"journal-article","created":{"date-parts":[[2020,8,8]],"date-time":"2020-08-08T05:52:54Z","timestamp":1596865974000},"page":"835-843","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Prevalence of germline <i>GATA2<\/i> and <i>SAMD9\/9L<\/i> variants in paediatric haematological disorders with monosomy 7"],"prefix":"10.1111","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9171-7335","authenticated-orcid":false,"given":"Masanori","family":"Yoshida","sequence":"first","affiliation":[{"name":"Department of Pediatric Hematology and Oncology Research National Research Institute for Child 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