{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T19:42:58Z","timestamp":1787168578120,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,12,20]],"date-time":"2024-12-20T00:00:00Z","timestamp":1734652800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Proteus syndrome (PS) is a rare disorder (&lt;\u20091\/1000000), marked by progressive overgrowth commonly impacting the skeleton, skin, adipose tissue, and central nervous system. Clinical criteria were established in 2019. PS arises from a somatic activating variation in the\n                    <jats:italic>AKT1<\/jats:italic>\n                    gene. We report the second case of PS diagnosed prenatally using whole exome sequencing (WES). A 34\u2010year\u2010old woman was referred for nonvisualized anterior brain structures and genital anomalies. At 21\u2009weeks of gestation (WG), ultrasonography confirmed brain anomalies, genital anomalies, and macrosomia. Array\u2010CGH revealed no pathogenic imbalances (arr(X,1\u201022)\u00d72). Follow\u2010up ultrasound (25\u2009WG) and MRI (27\u2009WG) also showed a megalencephaly, leading to WES on amniocytes. The reported mosaic variation in\n                    <jats:italic>AKT1<\/jats:italic>\n                    was identified. Medical termination of pregnancy occurred at 30\u2009+\u20091\u2009WG. We present a case of PS confirmed prenatally via WES. To date, six cases of prenatal PS suspicion have been reported, four of which lacked molecular diagnosis. Calculating prenatal clinical scores indicate PS could not be definitively diagnosed without molecular confirmation. Certain features, such as limb malformation and gray matter heterotopia, seem to be significant in prenatal diagnosis. WES, with an average coverage depth of 130X, is valuable for diagnosing suspected PS.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63968","type":"journal-article","created":{"date-parts":[[2024,12,20]],"date-time":"2024-12-20T06:32:15Z","timestamp":1734676335000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal Diagnosis of Proteus Syndrome: About a Case"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-8125-9816","authenticated-orcid":false,"given":"Luana","family":"Giovannangeli","sequence":"first","affiliation":[{"name":"Clinical Genetics Department CHU Amiens Picardie  Amiens France"},{"name":"Constitutional Genetics Laboratory CHU Amiens Picardie  Amiens France"},{"name":"UR4666 HEMATIM, Curs Picardie Jules Verne University  Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Magry","sequence":"additional","affiliation":[{"name":"Constitutional Genetics Laboratory CHU Amiens Picardie  Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4490-8224","authenticated-orcid":false,"given":"Florence","family":"Jobic","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department CHU Amiens Picardie  Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kahia","family":"Messaoudi","sequence":"additional","affiliation":[{"name":"Constitutional Genetics Laboratory CHU Amiens Picardie  Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walaa","family":"Darwiche","sequence":"additional","affiliation":[{"name":"Constitutional Genetics Laboratory CHU Amiens Picardie  Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Perriere","sequence":"additional","affiliation":[{"name":"Constitutional Genetics Laboratory CHU Amiens Picardie  Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Billes","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department CHU Amiens Picardie  Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9gol\u00e8ne","family":"Delmas Lanta","sequence":"additional","affiliation":[{"name":"Gynecology Department CHU Amiens Picardie  Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Masurel","sequence":"additional","affiliation":[{"name":"Neuropediatrics Department CHU Amiens Picardie  Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4428-6218","authenticated-orcid":false,"given":"Gilles","family":"Morin","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department CHU Amiens Picardie  Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5704-6830","authenticated-orcid":false,"given":"Guillaume","family":"Jedraszak","sequence":"additional","affiliation":[{"name":"Constitutional Genetics Laboratory CHU Amiens Picardie  Amiens France"},{"name":"UR4666 HEMATIM, Curs Picardie Jules Verne University  Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,12,20]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1801"},{"key":"e_1_2_7_3_1","volume-title":"GeneReviews","author":"Biesecker L. 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