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Here, we provide a significant extension of the phenotypic spectrum caused by\n                    <jats:italic>STX3<\/jats:italic>\n                    variants. We report ten individuals of diverse geographic origin with biallelic\n                    <jats:italic>STX3<\/jats:italic>\n                    loss-of-function variants, identified through exome sequencing, single-nucleotide polymorphism array-based homozygosity mapping, and international collaboration. The evaluated individuals all presented with MVID. Eight individuals also displayed early-onset severe retinal dystrophy, i.e., syndromic\u2014intestinal and retinal\u2014disease. These individuals harbored\n                    <jats:italic>STX3<\/jats:italic>\n                    variants that affected both the retinal and intestinal\n                    <jats:italic>STX3<\/jats:italic>\n                    transcripts, whereas\n                    <jats:italic>STX3<\/jats:italic>\n                    variants affected only the intestinal transcript in individuals with solitary MVID. That STX3 is essential for retinal photoreceptor survival was confirmed by the creation of a rod photoreceptor-specific\n                    <jats:italic>STX3<\/jats:italic>\n                    knockout mouse model which revealed a time-dependent reduction in the number of rod photoreceptors, thinning of the outer nuclear layer, and the eventual loss of both rod and cone photoreceptors. Together, our results provide a link between\n                    <jats:italic>STX3<\/jats:italic>\n                    loss-of-function variants and a human retinal dystrophy. Depending on the genomic site of a human loss-of-function\n                    <jats:italic>STX3<\/jats:italic>\n                    variant, it can cause MVID, the novel intestinal-retinal syndrome reported here or, hypothetically, an isolated retinal dystrophy.\n                  <\/jats:p>","DOI":"10.1007\/s00439-021-02284-1","type":"journal-article","created":{"date-parts":[[2021,5,11]],"date-time":"2021-05-11T10:03:23Z","timestamp":1620727403000},"page":"1143-1156","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects"],"prefix":"10.1007","volume":"140","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7155-0315","authenticated-orcid":false,"given":"Andreas 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This article was prepared while Roger Janz was employed at University of Texas Health Science Center in Houston. The opinions expressed in this article are the author's own and do not reflect the view of the National Institutes of Health, the Department of Health and Human Services, or the United States government.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"All human studies adhered to the principles set out in the Declaration of Helsinki. Animal procedures conformed to National Institutes of Health guidelines and were approved by the Animal Welfare Committee of the University of Texas Health Science Center at Houston.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human and animal rights"}},{"value":"Informed consent was obtained from all participants as required by the IRB at the Medical University of Innsbruck, Austria. 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