{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"medRxiv"}],"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T13:32:59Z","timestamp":1774272779697,"version":"3.50.1"},"posted":{"date-parts":[[2024,1,9]]},"group-title":"Genetic and Genomic Medicine","reference-count":99,"publisher":"openRxiv","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2024,1,9]]},"abstract":"<jats:title>SUMMARY<\/jats:title>\n                <jats:p>\n                  <jats:italic>SPOUT1\/CENP-32<\/jats:italic>\n                  encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1\/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignment. Aided by gene matching platforms, we identified 24 individuals with neurodevelopmental delays from 18 families with bi-allelic variants in\n                  <jats:italic>SPOUT1\/CENP-32<\/jats:italic>\n                  detected by exome\/genome sequencing. Zebrafish\n                  <jats:italic>spout1\/cenp-32<\/jats:italic>\n                  mutants showed reduction in larval head size with concomitant apoptosis likely associated with altered cell cycle progression.\n                  <jats:italic>In vivo<\/jats:italic>\n                  complementation assays in zebrafish indicated that\n                  <jats:italic>SPOUT1\/CENP-32<\/jats:italic>\n                  missense variants identified in humans are pathogenic. Crystal structure analysis of SPOUT1\/CENP-32 revealed that most disease-associated missense variants mapped to the catalytic domain. Additionally, SPOUT1\/CENP-32 recurrent missense variants had reduced methyltransferase activity\n                  <jats:italic>in vitro<\/jats:italic>\n                  and compromised centrosome tethering to the spindle poles in human cells. Thus,\n                  <jats:italic>SPOUT1\/CENP-32<\/jats:italic>\n                  pathogenic variants cause an autosomal recessive neurodevelopmental disorder: SpADMiSS (\n                  <jats:italic>SPOUT1<\/jats:italic>\n                  Associated Development delay Microcephaly Seizures Short stature) underpinned by mitotic spindle organization defects and consequent chromosome segregation errors.\n                <\/jats:p>","DOI":"10.1101\/2024.01.09.23300329","type":"posted-content","created":{"date-parts":[[2024,1,10]],"date-time":"2024-01-10T02:40:30Z","timestamp":1704854430000},"source":"Crossref","is-referenced-by-count":1,"title":["RNA methyltransferase SPOUT1\/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS"],"prefix":"10.64898","author":[{"given":"Avinash V.","family":"Dharmadhikari","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria 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