{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T10:05:55Z","timestamp":1774605955030,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T00:00:00Z","timestamp":1692230400000},"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":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>There are over 150 proteins involved in glycosylphosphatidylinositol (GPI)\u2010anchored protein biosynthesis, a class within the larger category of congenital disorders of glycosylation (CDG). Pathogenic variants identified in phosphatidylinositol glycan class A protein (PIGA) are associated with X\u2010linked PIGA\u2010CDG, a GPI\u2010anchor defect. The disease has primarily been characterized by hypotonia, epilepsy, and global developmental delay; however, only 89 known cases are reported, so the phenotypic spectrum has likely not yet been fully delineated. Congenital diaphragmatic hernia (CDH) has been reported in patients with various GPI\u2010anchor related defects but has only been described in one prior individual with PIGA\u2010CDG. Here, we describe the second and third reported cases of CDH in two brothers with PIGA\u2010CDG caused by a pathogenic missense variant in <jats:italic>PIGA<\/jats:italic>: c.355C\u2009&gt;\u2009T, p.R119W. Chromosomal microarray and whole exome sequencing did not reveal another plausible explanation for the CDH. We relate our patients' clinical features to the single previously reported individual with CDH and PIGA\u2010CDG. We then compare this case series with the subset of individuals with CDH and other GPI\u2010anchor defects. These findings suggest that CDH should be considered in the phenotypic disease spectrum of PIGA\u2010CDG.<\/jats:p>","DOI":"10.1002\/ajmg.a.63373","type":"journal-article","created":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T09:04:42Z","timestamp":1692263082000},"page":"2860-2867","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Congenital diaphragmatic hernia in siblings with <scp><i>PIGA<\/i><\/scp>\u2010related congenital disorder of glycosylation"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0915-6154","authenticated-orcid":false,"given":"Molly M.","family":"Crenshaw","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Section of Genetics and Metabolism University of Colorado School of Medicine (CU\u2010SOM)  Aurora Colorado USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren","family":"Thompson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Genetics and Metabolism University of Colorado School of Medicine (CU\u2010SOM)  Aurora Colorado USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel G.","family":"Piqu\u00e9","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Genetics and Metabolism University of Colorado School of Medicine (CU\u2010SOM)  Aurora Colorado USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kestutis","family":"Micke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Genetics and Metabolism University of Colorado School of Medicine (CU\u2010SOM)  Aurora Colorado USA"},{"name":"Division of Maternal\u2010Fetal Medicine, Department of Obstetrics and Gynecology CU\u2010SOM  Aurora Colorado USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margarita","family":"Saenz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Genetics and Metabolism University of Colorado School of Medicine (CU\u2010SOM)  Aurora Colorado USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"II","given":"Peter R.","family":"Baker","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Genetics and Metabolism University of Colorado School of Medicine (CU\u2010SOM)  Aurora Colorado USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,8,17]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2020.106530"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.16545"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36213"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005082"},{"key":"e_1_2_10_6_1","unstructured":"CDC. 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