دورية أكاديمية
A novel mutation in ITGB4 gene in a newborn with epidermolysis bullosa, pyloric atresia, and aplasia cutis congenita
| العنوان: | A novel mutation in ITGB4 gene in a newborn with epidermolysis bullosa, pyloric atresia, and aplasia cutis congenita |
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| المؤلفون: | Emel Okulu, Ceren D. Durmaz, Gaffari Tunc, Adil Guzel, Nuket Y. Kutlay, Omer Erdeve, Begum Atasay, John A. McGrath, Lu Liu, Saadet Arsan |
| المصدر: | Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-4 (2020) |
| بيانات النشر: | SpringerOpen, 2020. |
| سنة النشر: | 2020 |
| المجموعة: | LCC:Medicine (General) LCC:Genetics |
| مصطلحات موضوعية: | Epidermolysis bullosa, Carmi syndrome, Integrin alpha 6, Integrin beta 4, Medicine (General), R5-920, Genetics, QH426-470 |
| الوصف: | Abstract Background Epidermolysis bullosa with pyloric atresia (EB-PA), also known as Carmi syndrome, is an uncommon, autosomal recessive genodermatosis that typically affects the skin and gastrointestinal tract. EB-PA is caused by homozygous or compound heterozygous mutations in the integrin alpha 6 (ITGA6) gene on chromosome 2q31.1 or in the integrin beta 4 (ITGB4) gene on 17q25.1. Case presentation A male premature infant was born with aplasia cutis, atresia of the pylorus, and bilateral hydronephrosis. His clinical and imaging findings were compatible with EB-PA. A novel, small deletion of the last two bases in exon 6 and the first two nucleotides of intron 6 (c.565_566+2del) in ITGB4 gene was identified. Conclusion EB-PA-aplasia cutis congenita is known to be a non-treatable condition with a poor prognosis as the reported case. The novel mutation reported in this patient may lead to the lethal form of this disease. Identification of underlying genetic abnormality is critical to give genetic counseling. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2090-2441 |
| Relation: | http://link.springer.com/article/10.1186/s43042-020-00055-7; https://doaj.org/toc/2090-2441 |
| DOI: | 10.1186/s43042-020-00055-7 |
| URL الوصول: | https://doaj.org/article/d4af0db2796a49aeafe4c87286cb66a0 |
| رقم الأكسشن: | edsdoj.4af0db2796a49aeafe4c87286cb66a0 |
| قاعدة البيانات: | Directory of Open Access Journals |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 20902441 |
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| DOI: | 10.1186/s43042-020-00055-7 |