{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T21:55:20Z","timestamp":1772056520186,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2023,6,5]],"date-time":"2023-06-05T00:00:00Z","timestamp":1685923200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>NudC\u2010like protein 2 (<jats:italic>NUDCD2<\/jats:italic>) is a 4\u2010exon protein\u2010coding gene at 5q34. The protein appears to act in concert with other genes regulating cell migration and microtubule extension. Early studies in model organisms show associations with <jats:italic>LIS1<\/jats:italic>, <jats:italic>HERC2<\/jats:italic>, and cohesin subunits via a co\u2010chaperone function with Heat shock protein 90 (Hsp90). It is a candidate gene for human pathology. We present two unrelated patients with biallelic variants in <jats:italic>NUDCD2<\/jats:italic>. Their phenotypes comprise similar dysmorphic facies, midline brain hypoplasia, hypothyroidism, pulmonary and aortic valve stenosis, severe dysfunction of the liver and kidneys, profound hypotonia, and early death. The cellular analysis demonstrates the absence of the NUDCD2 protein in fibroblasts of one patient with biallelic loss\u2010of\u2010function variants. The data suggest that NUDCD2 deficiency causes this recognizable syndrome that has features of a ciliopathy with additional complications.<\/jats:p>","DOI":"10.1002\/ajmg.a.63314","type":"journal-article","created":{"date-parts":[[2023,6,7]],"date-time":"2023-06-07T01:57:49Z","timestamp":1686103069000},"page":"2324-2328","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Biallelic variants in <scp><i>NUDCD2<\/i><\/scp> associated with a multiple malformation syndrome with cholestasis and renal failure"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9025-3276","authenticated-orcid":false,"given":"Angela E.","family":"Scheuerle","sequence":"first","affiliation":[{"name":"Department of Pediatrics Division of Genetics and Metabolism, UT Southwestern Medical Center  Dallas Texas USA"},{"name":"Department of Pathology Division of Genetic Diagnostics, UT Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Ni","sequence":"additional","affiliation":[{"name":"Children's Research Institute, Genetic and Metabolic Disease Program, UT Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aaliya A.","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics University of Florida  Gainesville Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles F.","family":"Timmons","sequence":"additional","affiliation":[{"name":"Department of Pathology Division of Pediatric Pathology, UT Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dinesh","family":"Rakheja","sequence":"additional","affiliation":[{"name":"Department of Pathology Division of Pediatric Pathology, UT Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erin E.","family":"Gordon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Critical Care Medicine, UT Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan","family":"Boothe","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics University of Florida  Gainesville Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,6,5]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Bahi\u2010Buisson N.","year":"1993"},{"key":"e_1_2_8_3_1","first-page":"349","article-title":"NudCL2 regulates cell migration by stabilizing both myosin\u20109 and LIS1 with Hsp90","volume":"11","author":"Chen W.","year":"2020","journal-title":"Cell Death & Disease"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41556-020-0506-z"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41419-019-1843-3"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41422-021-00560-3"},{"key":"e_1_2_8_7_1","unstructured":"Mouse Genome Database. 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February 24 2023.https:\/\/www.informatics.jax.org\/marker\/MGI:1277103"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-018-2957-y"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0914307107"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0602916103"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63314","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T07:47:11Z","timestamp":1692690431000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63314"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,5]]},"references-count":9,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1002\/ajmg.a.63314"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63314","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,5]]},"assertion":[{"value":"2022-10-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}