{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:47:44Z","timestamp":1791978464889,"version":"4.4.0"},"reference-count":9,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2023,2,8]],"date-time":"2023-02-08T00:00:00Z","timestamp":1675814400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:p>Congenital disorders of glycosylation (CDG) are associated with ciliary dysfunction due to altered glycosylation of ciliary glycoproteins. We describe a severe ciliopathy-like phenotype in a female infant associated with a novel homozygous missense variant NM_004870.4( MPDU1):c.503G&gt;A\/p.Gly168Glu. Our findings, based on the co-segregation of the variant with the phenotype and in-silico analysis, implicate this MPDU1 missense variant in this disorder. Matched phenotype includes symmetric growth restriction, facial dysmorphism, ichthyosis, hepatomegaly with severe duct plate malformation, renal cortical tubular and glomerular cysts, moderate cerebral tetraventricular dilatation, and severe pontocerebellar hypoplasia. According to this observation, CDG should be included in the workup of infantile ciliopathy-like disorder.<\/jats:p>","DOI":"10.1177\/10935266231151773","type":"journal-article","created":{"date-parts":[[2023,2,9]],"date-time":"2023-02-09T00:47:55Z","timestamp":1675903675000},"page":"161-165","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Severe Ciliopathy-Like Phenotype in an Infant With a Novel\n                    <i>MPDU1<\/i>\n                    Missense Variant"],"prefix":"10.1177","volume":"26","author":[{"given":"Sihem","family":"Darouich","sequence":"first","affiliation":[{"name":"Universit\u00e9 de Tunis El Manar, Facult\u00e9 de M\u00e9decine de Tunis, Tunis, Tunisie"},{"name":"Unit\u00e9 de Pathologie F\u0153tale et Placentaire, CHU Habib Bougatfa, Bizerte, Tunisie"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Houda","family":"Bellamine","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Cytologie et Anatomie Pathologiques, H\u00f4pital Menzel Bourguiba, Menzel Bourguiba, Tunisie"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichrak","family":"Khamassi","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Tunis El Manar, Facult\u00e9 de M\u00e9decine de Tunis, Tunis, Tunisie"},{"name":"D\u00e9partement de N\u00e9onatologie et P\u00e9diatrie, CHU Habib Bougatfa, Bizerte, Tunisie"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2023,2,8]]},"reference":[{"key":"bibr1-10935266231151773","unstructured":"Lefeber DJ, Freeze HH, Steet R, Kinoshita T. Congenital disorders of glycosylation. In: Varki A, Cummings RD, Esko JD, et al., eds. Essentials of Glycobiology. 4th ed. Cold Spring Harbor Laboratory Press; 2022. 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