دورية أكاديمية
Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 gene
| العنوان: | Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 gene |
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| المؤلفون: | Tajir M, Lyahyai J, Guaoua S, El Alloussi M, Sefiani A |
| المصدر: | Balkan Journal of Medical Genetics, Vol 23, Iss 1, Pp 95-98 (2020) |
| بيانات النشر: | Sciendo, 2020. |
| سنة النشر: | 2020 |
| المجموعة: | LCC:Genetics |
| مصطلحات موضوعية: | ankyloblepharon, congenital ectodermal defect and clefting, hay-wells syndrome, sterile alpha motif (sam) domain, tp63 gene, Genetics, QH426-470 |
| الوصف: | 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. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1311-0160 2020-0013 |
| العلاقة: | https://doaj.org/toc/1311-0160Test |
| DOI: | 10.2478/bjmg-2020-0013 |
| الوصول الحر: | https://doaj.org/article/399ae78977ab4dd4bbe4a81cca59457eTest |
| رقم الانضمام: | edsdoj.399ae78977ab4dd4bbe4a81cca59457e |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 13110160 20200013 |
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| DOI: | 10.2478/bjmg-2020-0013 |