Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 gene
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 t...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Sciendo
2020-08-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/bjmg-2020-0013 |
| _version_ | 1797760821062795264 |
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| author | Tajir M Lyahyai J Guaoua S El Alloussi M Sefiani A |
| author_facet | Tajir M Lyahyai J Guaoua S El Alloussi M Sefiani A |
| author_sort | Tajir M |
| collection | DOAJ |
| description | 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 TP63 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>C (p.Gly600Arg) in exon 14 of the TP63 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. |
| first_indexed | 2024-03-12T19:05:03Z |
| format | Article |
| id | doaj.art-399ae78977ab4dd4bbe4a81cca59457e |
| institution | Directory Open Access Journal |
| issn | 1311-0160 |
| language | English |
| last_indexed | 2024-03-12T19:05:03Z |
| publishDate | 2020-08-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Balkan Journal of Medical Genetics |
| spelling | doaj.art-399ae78977ab4dd4bbe4a81cca59457e2023-08-02T06:19:04ZengSciendoBalkan Journal of Medical Genetics1311-01602020-08-01231959810.2478/bjmg-2020-0013bjmg-2020-0013Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 geneTajir M0Lyahyai J1Guaoua S2El Alloussi M3Sefiani A4Research team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, MoroccoResearch team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, MoroccoResearch team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, MoroccoDepartment of Pediatric Dentistry-Prevention, Faculty of Dental Medicine, Mohamed V Souissi University, Rabat, MoroccoResearch team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, MoroccoAnkyloblepharon-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 TP63 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>C (p.Gly600Arg) in exon 14 of the TP63 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.https://doi.org/10.2478/bjmg-2020-0013ankyloblepharoncongenital ectodermal defect and cleftinghay-wells syndromesterile alpha motif (sam) domaintp63 gene |
| spellingShingle | Tajir M Lyahyai J Guaoua S El Alloussi M Sefiani A Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 gene Balkan Journal of Medical Genetics ankyloblepharon congenital ectodermal defect and clefting hay-wells syndrome sterile alpha motif (sam) domain tp63 gene |
| title | Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 gene |
| title_full | Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 gene |
| title_fullStr | Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 gene |
| title_full_unstemmed | Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 gene |
| title_short | Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 gene |
| title_sort | ankyloblepharon ectodermal defects cleft lip palate syndrome due to a novel missense mutation in the sam domain of the tp63 gene |
| topic | ankyloblepharon congenital ectodermal defect and clefting hay-wells syndrome sterile alpha motif (sam) domain tp63 gene |
| url | https://doi.org/10.2478/bjmg-2020-0013 |
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