Novel mutations in one allele in a Chinese family with neurofibromatosis type 1: Including a complex insertion–deletion mutation
| العنوان: | Novel mutations in one allele in a Chinese family with neurofibromatosis type 1: Including a complex insertion–deletion mutation |
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| المؤلفون: | Lude Zhu, Mingye Bi, Yunfeng Zhang, Xiuli Wang, Guolong Zhang, Jie Pu, Lei Shi, Bo Wang, Linglin Zhang |
| المصدر: | The Journal of Dermatology |
| بيانات النشر: | John Wiley and Sons Inc., 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Concise Communications, DNA Mutational Analysis, Dermatology, Biology, medicine.disease_cause, neurofibromatosis type 1, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, INDEL Mutation, 030225 pediatrics, Genes, Neurofibromatosis 1, medicine, deletion–insertion, Humans, Neurofibromatosis, Allele, neoplasms, Genetics, Mutation, Chinese, Point mutation, Concise Communication, Infant, General Medicine, medicine.disease, Molecular biology, eye diseases, nervous system diseases, Reverse transcription polymerase chain reaction, NF1, Female, mutation, 030217 neurology & neurosurgery |
| الوصف: | Neurofibromatosis type 1 (NF1) is a hereditary disease with variable clinical manifestations. This study was performed in a Chinese three‐generation family containing two members with NF1. Two novel mutations, c.853_854insTC and c.1975_1976delinsTA, were identified in the same allele in both patients by direct sequencing. By reverse transcription polymerase chain reaction, we found that the NF1 transcript contained the first mutation instead of the second mutation, suggesting a pathological role of c.853_854insTC mutation. Case reports of patients with two NF1 mutations in the same allele have not been reported. Our findings expand the known spectrum of NF1 mutations and the ongoing recognition of different mutations may give insight into the mysterious NF1 pathogenesis. |
| اللغة: | English |
| تدمد: | 1346-8138 0385-2407 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f87af1a714ffe9d7b91dc10d31c25c4 http://europepmc.org/articles/PMC5108421 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....9f87af1a714ffe9d7b91dc10d31c25c4 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13468138 03852407 |
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