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Microcephaly, epilepsy, and diabetes syndrome (MEDS) is a congenital disorder with two known etiological genes,\n                    <jats:italic>IER3IP1<\/jats:italic>\n                    and\n                    <jats:italic>YIPF5<\/jats:italic>\n                    . Both genes encode proteins involved in endoplasmic reticulum (ER) to Golgi trafficking. We used genome sequencing to identify 6 individuals with MEDS caused by biallelic variants in the potentially novel disease gene\n                    <jats:italic>TMEM167A<\/jats:italic>\n                    . All had neonatal diabetes (diagnosed at &lt;6 months) and severe microcephaly, and 5 also had epilepsy.\n                    <jats:italic>TMEM167A<\/jats:italic>\n                    is highly expressed in developing and adult human pancreas and brain. To gain insights into the mechanisms leading to diabetes, we silenced\n                    <jats:italic>TMEM167A<\/jats:italic>\n                    in EndoC-\u03b2H1 cells and knocked-in one patient\u2019s variant, p.Val59Glu, in induced pluripotent stem cells (iPSCs). Both\n                    <jats:italic>TMEM167A<\/jats:italic>\n                    depletion in EndoC-\u03b2H1 cells and the p.Val59Glu variant in iPSC-derived \u03b2 cells sensitized \u03b2 cells to ER stress. The p.Val59Glu variant impaired proinsulin trafficking to the Golgi and induced iPSC-\u03b2 cell dysfunction. The discovery of\n                    <jats:italic>TMEM167A<\/jats:italic>\n                    variants as a genetic cause of MEDS highlights a critical role of TMEM167A in the ER to Golgi pathway in \u03b2 cells and neurons.\n                  <\/jats:p>","DOI":"10.1172\/jci195756","type":"journal-article","created":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T16:01:01Z","timestamp":1757433661000},"source":"Crossref","is-referenced-by-count":5,"title":["Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome"],"prefix":"10.1172","volume":"135","author":[{"given":"Enrico","family":"Virgilio","sequence":"first","affiliation":[{"name":"ULB Center for Diabetes Research, Universit\u00e9 Libre de Bruxelles, Brussels, Belgium."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Tielens","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Regulation of Neurogenesis, GIGA Institute, University of 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