{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,22]],"date-time":"2026-03-22T04:49:55Z","timestamp":1774154995646,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,9,4]],"date-time":"2022-09-04T00:00:00Z","timestamp":1662249600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/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":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD) are the characteristic findings of Adams\u2013Oliver syndrome (AOS). The variable clinical spectrum further includes cardiac, neurologic, renal, and ophthalmological findings. Associated genes in AOS are in the Notch and the CDC42\/Rac1 signaling pathways. Both autosomal\u2010dominant and autosomal\u2010recessive inheritances have been reported, the latter with pathogenic variants in <jats:italic>DOCK6<\/jats:italic> or <jats:italic>EOGT<\/jats:italic>. The <jats:italic>EOGT<\/jats:italic>\u2010associated recessive type of AOS has been postulated to present a more favorable prognosis. We here report a 12\u2010year\u2010old girl from a refugee family of Iraq with consanguineous parents. She was born with a severe phenotype of AOS presenting a large ACC of the scalp with an underlying skull defect, which was often infected and inflamed. Afterward, additional ulceration developed. Furthermore, the girl showed microcephaly, TTLD on both hands and feet, and neurological findings: spastic paresis, epilepsy and suspicion of intellectual deficit. Molecular genetic analysis (next\u2010generation sequencing) revealed a novel frameshift mutation in the <jats:italic>EOGT<\/jats:italic> gene in Exon 13 in homozygous constellation: c.1013dupA p.(Asn338Lysfs*24). A biopsy within an ulceration at the scalp ACC showed a cutaneous squamous cell carcinoma (cSCC) with local invasive growth into the dura, the meninges, and the cortex. Treatment including surgical resection and focal irradiation was not curative and the girl deceased 6 months after initial diagnosis. This report on a patient with AOS and an autosomal\u2010recessive <jats:italic>EOGT<\/jats:italic> gene variant dying of a local aggressive cSCC at an ACC lesion shows that close monitoring of ACC is essential.<\/jats:p>","DOI":"10.1002\/ajmg.a.62961","type":"journal-article","created":{"date-parts":[[2022,9,5]],"date-time":"2022-09-05T04:50:11Z","timestamp":1662353411000},"page":"3318-3323","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Cutaneous squamous cell carcinoma in an autosomal\u2010recessive <scp>Adams\u2013Oliver<\/scp> syndrome patient with a novel frameshift pathogenic variant in the <scp><i>EOGT<\/i><\/scp> gene"],"prefix":"10.1002","volume":"188","author":[{"given":"Meyer\u2010Landolt","family":"Lukas","sequence":"first","affiliation":[{"name":"Division of Pediatric Hematology &amp; Oncology, Department of Pediatrics, Inselspital University Hospital, University of Bern  Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaspar","family":"Harald","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Inselspital Bern University Hospital, University of Bern  Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Javier","family":"Sanz","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Inselspital Bern University Hospital, University of Bern  Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mafalda","family":"Trippel","sequence":"additional","affiliation":[{"name":"Institute of Pathology University of Bern  Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gallati","family":"Sabina","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Inselspital Bern University Hospital, University of Bern  Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4022-4917","authenticated-orcid":false,"given":"R\u00f6ssler","family":"Jochen","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology &amp; Oncology, Department of Pediatrics, Inselspital University Hospital, University of Bern  Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,9,4]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jhered.a105415"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.159"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37889"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23567"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0489-9"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61313"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.12968\/jowc.2017.26.6.342"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.02.012"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.013"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.115.001086"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.07.011"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejca.2020.01.008"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2010.06.029"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-012-1999-y"}],"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.62961","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62961","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62961","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T16:46:32Z","timestamp":1692636392000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62961"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,4]]},"references-count":14,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["10.1002\/ajmg.a.62961"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62961","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,4]]},"assertion":[{"value":"2021-11-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}