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We investigated the impact of novel missense variants with respect to ATPase and helicase activity, stress granule (SG) formation, global translation, and their effect on embryonic development in zebrafish. SG formation was additionally analyzed in CRISPR\/Cas9-mediated\n                      <jats:italic>DHX30<\/jats:italic>\n                      -deficient HEK293T and zebrafish models, along with in vivo behavioral assays.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified 25 previously unreported individuals, ten of whom carry novel variants, two of which are recurrent, and provide evidence of gonadal mosaicism in one family. All 19 individuals harboring heterozygous missense variants within helicase core motifs (HCMs) have global developmental delay, intellectual disability, severe speech impairment, and gait abnormalities. These variants impair the ATPase and helicase activity of DHX30, trigger SG formation, interfere with global translation, and cause developmental defects in a zebrafish model. Notably, 4 individuals harboring heterozygous variants resulting either in haploinsufficiency or truncated proteins presented with a milder clinical course, similar to an individual harboring a de novo mosaic HCM missense variant. Functionally, we established DHX30 as an ATP-dependent RNA helicase and as an evolutionary conserved factor in SG assembly. Based on the clinical course, the variant location, and type we establish two distinct clinical subtypes.\n                      <jats:italic>DHX30<\/jats:italic>\n                      loss-of-function variants cause a milder phenotype whereas a severe phenotype is caused by HCM missense variants that, in addition to the loss of ATPase and helicase activity, lead to a detrimental gain-of-function with respect to SG formation. Behavioral characterization of\n                      <jats:italic>dhx30<\/jats:italic>\n                      -deficient zebrafish revealed altered sleep-wake activity and social interaction, partially resembling the human phenotype.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our study highlights the usefulness of social media to define novel Mendelian disorders and exemplifies how functional analyses accompanied by clinical and genetic findings can define clinically distinct subtypes for ultra-rare disorders. Such approaches require close interdisciplinary collaboration between families\/legal representatives of the affected individuals, clinicians, molecular genetics diagnostic laboratories, and research laboratories.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13073-021-00900-3","type":"journal-article","created":{"date-parts":[[2021,5,21]],"date-time":"2021-05-21T10:03:19Z","timestamp":1621591399000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Genotype\u2013phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders"],"prefix":"10.1186","volume":"13","author":[{"given":"Ilaria","family":"Mannucci","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nghi D. 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LOVD 3.0. https:\/\/databases.lovd.nl\/shared\/variants\/0000763362."}],"container-title":["Genome Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13073-021-00900-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13073-021-00900-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13073-021-00900-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,7]],"date-time":"2021-06-07T06:23:21Z","timestamp":1623047001000},"score":1,"resource":{"primary":{"URL":"https:\/\/genomemedicine.biomedcentral.com\/articles\/10.1186\/s13073-021-00900-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,21]]},"references-count":56,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["900"],"URL":"https:\/\/doi.org\/10.1186\/s13073-021-00900-3","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2020.09.24.20196097","asserted-by":"object"}]},"ISSN":["1756-994X"],"issn-type":[{"value":"1756-994X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,21]]},"assertion":[{"value":"2 September 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 April 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 May 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was performed in accordance with the Declaration of Helsinki protocols. Written informed consent for all 25 subjects was obtained from the parents or legal guardians in accordance with protocols approved by the Ethics Committee of the Hamburg Chamber of Physicians: PV 3802 and the University of California, Los Angeles (UCLA) IRB: 11-001087. Zebrafish were maintained according to protocols by the University of Alabama Zebrafish Research Facility (ZRF) Animal Resources Program which maintains full Association for Assessment and Accreditation of Laboratory Animal Care International (AAALAC) accreditation and is assured with the Office of Laboratory Animal Welfare (OLAW). All zebrafish studies followed protocols approved by the University of Alabama Institutional Animal Care and Use Committee (IACUC): APN22158.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"A written consent was obtained from the parents or legal guardians to publish the details of all 25 affected individuals.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"K.M. and J.J. are employees of GeneDx, Inc. The remaining authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"90"}}