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So far eight boys of two different families have been described in the literature, all presenting the distinctive and recognizable phenotype, which includes mostly postnatal growth retardation, global severe developmental delay, characteristic craniofacial features, and structural cardiac anomalies and\/or arrhythmias. Here, we report the ninth case of Ogden syndrome with an independent recurrence of the Ser37Pro variant. We were able to follow the clinical course of the affected boy and delineate the evolving phenotype from his birth until his unfortunate death at 7 months. We could confirm the associated phenotype as well as the natural history of this severe disease. By describing new presenting features, we are further expanding the clinical spectrum associated with Ogden syndrome and review other phenotypes associated with NAA10 variants.<\/jats:p>","DOI":"10.1002\/ajmg.a.62351","type":"journal-article","created":{"date-parts":[[2021,6,2]],"date-time":"2021-06-02T10:48:40Z","timestamp":1622630920000},"page":"2546-2560","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Confirmation of Ogden syndrome as an X\u2010linked recessive fatal disorder due to a recurrent <scp>NAA10<\/scp> variant and review of the literature"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0516-9409","authenticated-orcid":false,"given":"Laura","family":"Gogoll","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics, University of Zurich  Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4425-3072","authenticated-orcid":false,"given":"Katharina","family":"Steindl","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, University of Zurich  Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4349-9951","authenticated-orcid":false,"given":"Pascal","family":"Joset","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, University of Zurich  Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8290-0413","authenticated-orcid":false,"given":"Markus","family":"Zweier","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, University of Zurich  Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5124-4740","authenticated-orcid":false,"given":"Alessandra","family":"Baumer","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, University of Zurich  Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6298-615X","authenticated-orcid":false,"given":"Christina","family":"Gerth\u2010Kahlert","sequence":"additional","affiliation":[{"name":"Division of Ophthalmology University Hospital Zurich  Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8442-3865","authenticated-orcid":false,"given":"Boris","family":"Tutschek","sequence":"additional","affiliation":[{"name":"Prenatal Z\u00fcrich  Z\u00fcrich Switzerland"},{"name":"Medical Faculty Heinrich Heine University  D\u00fcsseldorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2930-3163","authenticated-orcid":false,"given":"Anita","family":"Rauch","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, University of Zurich  Schlieren Switzerland"},{"name":"University Children's Hospital  Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,6]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2016.07.005"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20041071"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2005.12.008"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01199-09"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-020-01091-1"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep16022"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz111"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz173"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2015.04.085"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101660"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010101)98:1<92::AID-AJMG1009>3.0.CO;2-O"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/febs.12373"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.23.20.7403-7414.2003"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816819109023084"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105836"},{"issue":"7","key":"e_1_2_11_17_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s12276-018-0105-2","article-title":"N\u2010alpha\u2010acetyltransferase 10 (NAA10) in development: The role of NAA10","volume":"50","author":"Lee M. 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