{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:45:33Z","timestamp":1777329933791,"version":"3.51.4"},"reference-count":14,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,8,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Ankyloblepharon-ectodermal defects-cleft lip\/palate (AEC) syndrome is a rare genetic disease with an autosomal dominant transmission, characterized by several congenital anomalies. Clinical features include ectodermal defects affecting the skin, hair, teeth, nails and sweat glands, associated with typical eyelid fusion in addition to a cleft lip and\/or palate. The diagnosis is based on clinical criteria and molecular genetic testing of\n                    <jats:italic>TP63<\/jats:italic>\n                    gene, the gene related to AEC syndrome. In this context, most reported mutations induce an amino acid change in the sterile alpha motif (SAM) domain, and are predicted to disrupt protein-protein interactions. We here describe the case of a 2-year-old Moroccan girl diagnosed with AEC syndrome on the basis of clinical features. The molecular studies and bioinformatics tools revealed a novel heterozygous missense mutation c.1798G&gt;C (p.Gly600Arg) in exon 14 of the\n                    <jats:italic>TP63<\/jats:italic>\n                    gene, that was not found in her parents. The molecular analysis and the early diagnosis of this syndrome are important to offer appropriate genetic counseling and management to patients and their families.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2020-0013","type":"journal-article","created":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T10:42:38Z","timestamp":1598611358000},"page":"95-98","source":"Crossref","is-referenced-by-count":7,"title":["Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the\n                    <i>TP63<\/i>\n                    gene"],"prefix":"10.2478","volume":"23","author":[{"given":"M","family":"Tajir","sequence":"first","affiliation":[{"name":"Research team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V , Rabat , Morocco"},{"name":"Department of Medical Genetics, National Institute of Health , Rabat , Morocco"},{"name":"Medical Genetics Laboratory, Faculty of Medicine and Pharmacy, Mohamed Premier University , Oujda , Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Lyahyai","sequence":"additional","affiliation":[{"name":"Research team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V , Rabat , Morocco"},{"name":"Department of Medical Genetics, National Institute of Health , Rabat , Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Guaoua","sequence":"additional","affiliation":[{"name":"Research team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V , Rabat , Morocco"},{"name":"Department of Medical Genetics, National Institute of Health , Rabat , Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"El Alloussi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry-Prevention, Faculty of Dental Medicine, Mohamed V Souissi University , Rabat , Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Sefiani","sequence":"additional","affiliation":[{"name":"Research team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V , Rabat , Morocco"},{"name":"Department of Medical Genetics, National Institute of Health , Rabat , Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2020,8,26]]},"reference":[{"key":"2026042718404060871_j_bjmg-2020-0013_ref_001_w2aab3b7c15b1b6b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Hay RJ, Wells RS. The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: An autosomal dominant condition. Br J Dermatol. 1976; 94(3): 277-289.","DOI":"10.1111\/j.1365-2133.1976.tb04384.x"},{"key":"2026042718404060871_j_bjmg-2020-0013_ref_002_w2aab3b7c15b1b6b1ab2b1b2Aa","unstructured":"Sutton VR, van Bokhoven H. TP63-related disorders. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., Editors. Gene Reviews. Seattle, WA, USA; 1993-2019 https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK43797\/"},{"key":"2026042718404060871_j_bjmg-2020-0013_ref_003_w2aab3b7c15b1b6b1ab2b1b3Aa","doi-asserted-by":"crossref","unstructured":"Zhang Z, Cheng R, Liang J, Lu Z, Wang Y, Li M, et al. Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work. J Dermatol. 2019; 46(5): 422-425.","DOI":"10.1111\/1346-8138.14837"},{"key":"2026042718404060871_j_bjmg-2020-0013_ref_004_w2aab3b7c15b1b6b1ab2b1b4Aa","doi-asserted-by":"crossref","unstructured":"Ferone G, Thomason HA, Antonini D, De Rosa L, Hu B, Gemei M, et al. Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome. EMBO Mol Med. 2012; 4(3): 192-205.","DOI":"10.1002\/emmm.201100199"},{"key":"2026042718404060871_j_bjmg-2020-0013_ref_005_w2aab3b7c15b1b6b1ab2b1b5Aa","doi-asserted-by":"crossref","unstructured":"Tomkova H, Fujimoto W, Uchida T, Macko J, Gaillyova R, Buckova H. AEC syndrome caused by heterozygous mutation in the SAM domain of p63 gene. Eur J Dermatol. 2010; 20(3): 411-413.","DOI":"10.1684\/ejd.2010.0931"},{"key":"2026042718404060871_j_bjmg-2020-0013_ref_006_w2aab3b7c15b1b6b1ab2b1b6Aa","doi-asserted-by":"crossref","unstructured":"Ferstl P, Wohlfart S, Schneider H. Sweating ability of patients with p63-associated syndromes. Eur J Pediatr. 2018; 177(11): 1727-1731.","DOI":"10.1007\/s00431-018-3227-6"},{"key":"2026042718404060871_j_bjmg-2020-0013_ref_007_w2aab3b7c15b1b6b1ab2b1b7Aa","doi-asserted-by":"crossref","unstructured":"Guo S, Chen R, Xu Y, Mu Y, Chen L. Ankylo-blepharon-ectodermal defects-cleft lip\/palate syndrome. J Craniofac Surg. 2017; 28(4): e349-e351.","DOI":"10.1097\/SCS.0000000000003600"},{"key":"2026042718404060871_j_bjmg-2020-0013_ref_008_w2aab3b7c15b1b6b1ab2b1b8Aa","doi-asserted-by":"crossref","unstructured":"Fete M, van Bokhoven H, Clements SE, McKeon F, Roop DR, Koster MI, et al. International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip\/ Palate (AEC) syndrome. Am J Med Genet A. 2009; 149A(9): 1885-1893.","DOI":"10.1002\/ajmg.a.32761"},{"key":"2026042718404060871_j_bjmg-2020-0013_ref_009_w2aab3b7c15b1b6b1ab2b1b9Aa","doi-asserted-by":"crossref","unstructured":"Dishop MK, Bree AF, Hicks MJ. 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