{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T17:31:50Z","timestamp":1790271110999,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,3,20]],"date-time":"2017-03-20T00:00:00Z","timestamp":1489968000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["K12HD043494"],"award-info":[{"award-number":["K12HD043494"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>Immunodysregulation, Polyendocrinopathy, Enteropathy, X\u2010linked (IPEX) syndrome is a rare, X\u2010linked recessive disease that affects regulatory T cells (Tregs) resulting in diarrhea, enteropathy, eczema, and insulin\u2010dependent diabetes mellitus. IPEX syndrome is caused by pathogenic alterations in <jats:italic>FOXP3<\/jats:italic> located at Xp11.23. <jats:italic>FOXP3<\/jats:italic> encodes a transcription factor that interacts with several partners, including NFAT and NF\u2010\u03baB, and is necessary for the proper cellular differentiation of Tregs. Although variable, the vast majority of IPEX syndrome patients have onset of disease during infancy with severe enteropathy. Only five families with prenatal presentation of IPEX syndrome have been reported. Here, we present two additional prenatal onset cases with novel inherited frameshift pathogenic variants in <jats:italic>FOXP3<\/jats:italic> that generate premature stop codons. Ultrasound findings in the first patient identified echogenic bowel, echogenic debris, scalp edema, and hydrops. In the second patient, ultrasound findings included polyhydramnios with echogenic debris, prominent fluid\u2010filled loops of bowel, and echogenic bowel. These cases further broaden the phenotypic spectrum of IPEX syndrome by describing previously unappreciated prenatal ultrasound findings associated with the disease.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38144","type":"journal-article","created":{"date-parts":[[2017,3,20]],"date-time":"2017-03-20T05:16:56Z","timestamp":1489987016000},"page":"1219-1225","source":"Crossref","is-referenced-by-count":31,"title":["Novel pathogenic variants in <i>FOXP3<\/i> in fetuses with echogenic bowel and skin desquamation identified by ultrasound"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6788-1151","authenticated-orcid":false,"given":"Raymond J.","family":"Louie","sequence":"first","affiliation":[{"name":"Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Queenie K.\u2010G.","family":"Tan","sequence":"additional","affiliation":[{"name":"Duke University School of Medicine Durham North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer B.","family":"Gilner","sequence":"additional","affiliation":[{"name":"Duke University School of Medicine Durham North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. 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