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Mutations in the <jats:italic>ZBTB20<\/jats:italic> gene have been established as being accountable for this syndrome. In this study, a novel de novo <jats:italic>ZBTB20<\/jats:italic> mutation, NM_001164342.2:c.1945C&gt;T (p.Leu649Phe), has been identified through whole exome sequencing (WES) in a female patient presenting a typical Primrose phenotype. Because the present patient exhibited recurrent otitis media, detailed immunological examinations were performed in this study and subnormal immunoglobulin levels were firstly identified in a Primrose patient. Anatomical anomaly of the inner ear has never been reported in this patient and WES data did not include any relevant variants causally linked with the immunologic defect. Thus, there is a possibility of a relation between an unclassified immunodeficiency with selective IgG2 deficiency and Primrose syndrome and this may be the reason of recurrent otitis media frequently observed in Primrose patients. Because subnormal levels of IgG2 in this patient might be caused by an unrelated and still uncharacterized genetic cause, further studies are required to prove the causal link between aberrant ZBTB20 function and immunodeficiency.<\/jats:p>","DOI":"10.1002\/ajmg.a.61432","type":"journal-article","created":{"date-parts":[[2019,12,10]],"date-time":"2019-12-10T13:51:41Z","timestamp":1575985901000},"page":"521-526","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Primrose syndrome associated with unclassified immunodeficiency and a novel <i>ZBTB20<\/i> mutation"],"prefix":"10.1002","volume":"182","author":[{"given":"Keiko","family":"Yamamoto\u2010Shimojima","sequence":"first","affiliation":[{"name":"Japan Society for the Promotion of Science (RPD)  Tokyo Japan"},{"name":"Institute of Medical Genetics Tokyo Women's Medical University  Tokyo Japan"},{"name":"Tokyo Women's Medical University Institute for Integrated Medical Sciences  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taichi","family":"Imaizumi","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics Tokyo Women's Medical University  Tokyo Japan"},{"name":"Department of Pediatrics St. Marianna University School of Medicine  Kawasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Akagawa","sequence":"additional","affiliation":[{"name":"Tokyo Women's Medical University Institute for Integrated Medical Sciences  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitoshi","family":"Kanno","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics Tokyo Women's Medical University  Tokyo Japan"},{"name":"Department of Transfusion Medicine and Cell Processing Tokyo Women's Medical University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9484-3505","authenticated-orcid":false,"given":"Toshiyuki","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics Tokyo Women's Medical University  Tokyo Japan"},{"name":"Tokyo Women's Medical University Institute for Integrated Medical Sciences  Tokyo Japan"},{"name":"Department of Pediatrics St. Marianna University School of Medicine  Kawasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,12,10]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38684"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-002-0850-x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33955"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38124"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61024"},{"issue":"3","key":"e_1_2_8_7_1","first-page":"301","article-title":"The syndrome of mental handicap, cataracts, muscle wasting and skeletal abnormalities: Report of a second case","volume":"30","author":"Collacott R. 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