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This gene encodes the \u03c31A protein, which is a subunit of the adaptor protein complex 1 (AP-1), a key component of the intracellular protein trafficking machinery. Previous work identified three <jats:italic>AP1S1<\/jats:italic> nonsense, frameshift and splice-site variants in MEDNIK patients predicted to encode truncated \u03c31A proteins, with consequent AP-1 dysfunction. However, two <jats:italic>AP1S1<\/jats:italic> missense variants (c.269\u00a0T\u2009&gt;\u2009C and c.346G\u2009&gt;\u2009A) were recently reported in patients who presented with severe enteropathy but no additional symptoms of MEDNIK. This condition was described as a novel non-syndromic form of congenital diarrhea caused specifically by the <jats:italic>AP1S1<\/jats:italic> missense variants. In this study, we report two patients with the same c.269\u00a0T\u2009&gt;\u2009C variant, who, contrary to the previous cases, presented as complete MEDNIK syndrome. These data substantially revise the presentation of disorders associated with <jats:italic>AP1S1<\/jats:italic> gene variants and indicate that all the identified pathogenic <jats:italic>AP1S1<\/jats:italic> variants result in MEDNIK syndrome. We also provide a series of functional analyses that elucidate the impact of the c.269\u00a0T\u2009&gt;\u2009C variant on \u03c31A function, contributing to a better understanding of the molecular pathogenesis of MEDNIK syndrome.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Key messages<\/jats:title>\n                <jats:p><jats:list list-type=\"bullet\">\n                  <jats:list-item>\n                    <jats:p>A missense <jats:italic>AP1S1<\/jats:italic> c.269\u00a0T\u2009&gt;\u2009C (\u03c31A L90P) variant causes full MEDNIK syndrome.<\/jats:p>\n                  <\/jats:list-item>\n                  <jats:list-item>\n                    <jats:p>The \u03c31A L90P variant is largely unable to assemble into the AP-1 complex.<\/jats:p>\n                  <\/jats:list-item>\n                  <jats:list-item>\n                    <jats:p>The \u03c31A L90P variant fails to bind [DE]XXXL[LI] sorting motifs.<\/jats:p>\n                  <\/jats:list-item>\n                  <jats:list-item>\n                    <jats:p>The \u03c31A L90P variant results in loss-of-function of the protein.<\/jats:p>\n                  <\/jats:list-item>\n                <\/jats:list><\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00109-024-02482-0","type":"journal-article","created":{"date-parts":[[2024,9,13]],"date-time":"2024-09-13T07:02:45Z","timestamp":1726210965000},"page":"1343-1353","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Revising pathogenesis of AP1S1-related MEDNIK syndrome: a missense variant in the AP1S1 gene as a causal genetic lesion"],"prefix":"10.1007","volume":"102","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2991-8873","authenticated-orcid":false,"given":"Marketa","family":"Rackova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1421-0722","authenticated-orcid":false,"given":"Rafael","family":"Mattera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2966-3687","authenticated-orcid":false,"given":"Michael","family":"Svaton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8106-1037","authenticated-orcid":false,"given":"Filip","family":"Fencl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8513-1066","authenticated-orcid":false,"given":"Veronika","family":"Kanderova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9963-4764","authenticated-orcid":false,"given":"Karolina","family":"Spicakova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sang Yoon","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0393-2415","authenticated-orcid":false,"given":"Ondrej","family":"Fabian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8422-732X","authenticated-orcid":false,"given":"Miroslav","family":"Koblizek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6900-8145","authenticated-orcid":false,"given":"Eva","family":"Fronkova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5673-6370","authenticated-orcid":false,"given":"Juan S.","family":"Bonifacino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4860-7453","authenticated-orcid":false,"given":"Karolina","family":"Skvarova Kramarzova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,9,13]]},"reference":[{"key":"2482_CR1","doi-asserted-by":"publisher","first-page":"724","DOI":"10.1016\/J.TIG.2022.02.012","volume":"38","author":"A Garc\u00eda-Cazorla","year":"2022","unstructured":"Garc\u00eda-Cazorla A, Oyarz\u00e1bal A, Saudubray JM et al (2022) Genetic disorders of cellular trafficking. 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