{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T20:50:53Z","timestamp":1779223853135,"version":"3.51.4"},"reference-count":19,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,9,25]],"date-time":"2020-09-25T00:00:00Z","timestamp":1600992000000},"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":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report clinical and radiological features of a patient born with an isolated skull malformation of caput membranaceum and partial bicoronal craniosynostosis with a novel, de novo heterozygous missense variant in <jats:italic>ZIC1<\/jats:italic> [NM_003412.3:c.1183C&gt;G, p.(Pro395Ala)]. Caput membranaceum, or boneless skull, is a rare manifestation of skull ossification defect. It can result from an isolated, enlarged parietal foramina or it can present as part of skeletal dysplasia syndromes associated with poor mineralization such as hypophosphatasia, osteogenesis imperfecta type II, and Saethre\u2010Chotzen syndrome. Their causative genes are well described. <jats:italic>ZIC1<\/jats:italic>, Zinc Finger protein of the cerebellum 1 (OMIM #600470) belongs to ZIC family genes, each encoding a Cys2 His2\u2010type zinc finger domain\u2010containing transcription factors. Recent studies have shown that pathogenic variants in <jats:italic>ZIC1<\/jats:italic> have deleterious effect in developing human central nerves system and skull bone. <jats:italic>ZIC1<\/jats:italic> related clinical conditions are reported and include cerebellum malformation, Dandy\u2010Walker malformation, spinal dysraphism, microcephaly, and craniosynostosis with associated intellectual disability. To\u2010date, there is no report of pathogenic variant in <jats:italic>ZIC1<\/jats:italic> causing isolated caput membranaceum. Our observation adds to the clinical spectrum of <jats:italic>ZIC1<\/jats:italic> related skull malformation.<\/jats:p>","DOI":"10.1002\/ajmg.a.61882","type":"journal-article","created":{"date-parts":[[2020,9,25]],"date-time":"2020-09-25T09:30:56Z","timestamp":1601026256000},"page":"2994-2998","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Caput membranaceum: A novel clinical presentation of <scp><i>ZIC1<\/i><\/scp> related skull malformation and craniosynostosis"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1448-1151","authenticated-orcid":false,"given":"Erina","family":"Sasaki","sequence":"first","affiliation":[{"name":"Clinical Genetics Department Children's Health Ireland  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela T.","family":"Byrne","sequence":"additional","affiliation":[{"name":"Department of Paediatric Radiology Children's Health Ireland  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dylan J.","family":"Murray","sequence":"additional","affiliation":[{"name":"National Paediatric Craniofacial Centre (NPCC) Children's Health Ireland  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William","family":"Reardon","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Children's Health Ireland  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,9,25]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcn.2004.01.004"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-981-10-7311-3_13"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_2_8_5_1","volume-title":"Abnormal skeletal phenotypes: From simple signs to complex diagnoses","author":"Castriota\u2010Scanderberg A.","year":"2006"},{"key":"e_1_2_8_6_1","volume-title":"Craniosynostosis: Diagnosis, evaluation and management","author":"Cohen M. 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