{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T16:35:35Z","timestamp":1784306135144,"version":"3.55.0"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T00:00:00Z","timestamp":1725494400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R01 HD055651"],"award-info":[{"award-number":["R01 HD055651"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R01HD105868"],"award-info":[{"award-number":["R01HD105868"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Gain\u2010of\u2010function variants in the <jats:italic>WDR44<\/jats:italic> gene have recently been associated with an X\u2010linked ciliopathy\u2010related neurodevelopmental phenotype. Here, we report on a <jats:italic>WDR44<\/jats:italic> loss\u2010of\u2010function (LOF) variant identified in the genome sequence from a male fetus enrolled in the Prenatal Genetic Diagnosis by Genomic Sequencing (PrenatalSEQ) multicenter study. The phenotype is consistent with the described X\u2010linked ciliopathy that includes developmental delay, microcephaly, congenital heart defects, kidney abnormalities, cryptorchidism, musculoskeletal abnormalities, craniofacial dysmorphism, and effusions. This is the first report of a <jats:italic>WDR44<\/jats:italic> LOF variant in an affected individual with a prenatal presentation and supports LOF as a mechanism for the X\u2010linked <jats:italic>WDR44<\/jats:italic> ciliopathy\u2010related phenotype.<\/jats:p>","DOI":"10.1002\/ajmg.a.63861","type":"journal-article","created":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T13:26:03Z","timestamp":1725542763000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<i>WDR44<\/i> Loss\u2010of\u2010Function Promoter Deletion in a Male Newborn With a Ciliopathy Phenotype"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1137-8992","authenticated-orcid":false,"given":"Tam P.","family":"Sneddon","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of North Carolina  Chapel Hill North Carolina USA"},{"name":"Department of Genetics University of North Carolina  Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly L.","family":"Gilmore","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University of North Carolina  Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mai","family":"Xiong","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of North Carolina  Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen E.","family":"Weck","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of North Carolina  Chapel Hill North Carolina USA"},{"name":"Department of Genetics University of North Carolina  Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bradford C.","family":"Powell","sequence":"additional","affiliation":[{"name":"Department of Genetics University of North Carolina  Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neeta L.","family":"Vora","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University of North Carolina  Chapel Hill North Carolina 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