{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T15:28:01Z","timestamp":1770823681320,"version":"3.50.1"},"reference-count":45,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,8,3]],"date-time":"2018-08-03T00:00:00Z","timestamp":1533254400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>AnWj is a high\u2010incidence blood group antigen associated with three clinical disorders: lymphoid malignancies, immunologic disorders, and autoimmune hemolytic anemia. The aim of this study was to determine the genetic basis of an inherited AnWj\u2010negative phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We identified a consanguineous family with two AnWj\u2010negative siblings and 4 additional AnWj\u2010negative individuals without known familial relationship to the index family. We performed exome sequencing in search for rare homozygous variants shared by the two AnWj\u2010negative siblings of the index family and searched for these variants in the four non\u2010related AnWj\u2010negative individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Exome sequencing revealed seven candidate genes that showed complete segregation in the index family and for which the two AnWj\u2010negative siblings were homozygous. However, the four additional non\u2010related AnWj\u2010negative subjects were homozygous for only one of these variants, rs114851602 (R320Q) in the <jats:italic><jats:styled-content style=\"fixed-case\">SMYD<\/jats:styled-content>1<\/jats:italic> gene. Considering the frequency of the minor allele, the chance of randomly finding 4 consecutive such individuals is 2.56\u00a0\u00d7\u00a010<jats:sup>\u221218<\/jats:sup>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We present genetic and statistical evidence that the R320Q substitution in <jats:italic><jats:styled-content style=\"fixed-case\">SMYD<\/jats:styled-content>1<\/jats:italic> underlies an inherited form of the AnWj\u2010negative blood group phenotype. The mechanism by which the mutation leads to this phenotype remains to be determined.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ejh.13133","type":"journal-article","created":{"date-parts":[[2018,6,29]],"date-time":"2018-06-29T12:00:21Z","timestamp":1530273621000},"page":"496-501","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["<i><scp>SMYD<\/scp>1<\/i> is the underlying gene for the AnWj\u2010negative blood group phenotype"],"prefix":"10.1111","volume":"101","author":[{"given":"Vered","family":"Yahalom","sequence":"first","affiliation":[{"name":"Magen David Adom (MDA) National Blood Services Tel Hashomer  Ramat Gan Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nir","family":"Pillar","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine Tel\u2010Aviv University  Tel\u2010Aviv 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