{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,6]],"date-time":"2025-08-06T13:03:55Z","timestamp":1754485435700,"version":"3.41.2"},"reference-count":13,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T00:00:00Z","timestamp":1715126400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital disorders of glycosylation (CDG) are a group of rare autosomal recessive genetic disorders caused by pathogenic variants in genes coding for <jats:italic>N<\/jats:italic>\u2010glycosylated glycoproteins, which play a role in folding, degrading, and transport of glycoproteins in their pathway. ALG12\u2010CDG specifically is caused by biallelic pathogenic variants in <jats:italic>ALG12<\/jats:italic>. Currently reported features of ALG12\u2010CDG include: developmental delay, hypotonia, failure to thrive and\/or short stature, brain anomalies, recurrent infections, hypogammaglobulinemia, coagulation abnormalities, and genitourinary abnormalities. In addition, skeletal abnormalities resembling a skeletal dysplasia including shortened long bones and talipes equinovarus have been seen in more severe neonatal presentation of this disorder. We report on a case expanding the phenotype of ALG12\u2010CDG to include bilateral, multicystic kidneys in a neonatal demise identified with homozygous pathogenic variants in the <jats:italic>ALG12<\/jats:italic> gene at c.1001del (p.N334Tfs*15) through clinical trio exome sequencing.<\/jats:p>","DOI":"10.1002\/ajmg.a.63660","type":"journal-article","created":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T11:44:52Z","timestamp":1715168692000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Expanded prenatal phenotype of ALG12\u2010associated congenital disorder of glycosylation including bilateral multicystic kidneys"],"prefix":"10.1002","volume":"194","author":[{"given":"Manjushree","family":"Shanmugasundaram","sequence":"first","affiliation":[{"name":"John Sealy School of Medicine, University of Texas Medical Branch  Galveston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University of Texas Medical Branch  Galveston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9108-5884","authenticated-orcid":false,"given":"Megan","family":"Morand","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolism, Department of Pediatrics University of Texas Medical Branch  Galveston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Colin","family":"Bixler","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolism, Department of Pediatrics University of Texas Medical Branch  Galveston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sangeeta","family":"Jain","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University of Texas Medical Branch  Galveston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"Ray","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolism, Department of Pediatrics University of Texas Medical Branch  Galveston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,5,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M203285200"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1304"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0137-3"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.09.014"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2019.1692361"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfv465"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.19.2331"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2021.05.013"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31791"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2014.04.004"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10719-019-09890-2"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2019.08.007"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj20020794"}],"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.63660","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,9]],"date-time":"2024-10-09T15:25:35Z","timestamp":1728487535000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63660"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,8]]},"references-count":13,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["10.1002\/ajmg.a.63660"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63660","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2024,5,8]]},"assertion":[{"value":"2023-12-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-08","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63660"}}