Characterization of NF1 frameshift mutations in pediatric patients with neurofibromatosis type I
نویسندگان
چکیده
منابع مشابه
Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I
Neurofibromatosis type 1 (NF1) is a common genetic disorder characterized by the occurrence of nerve sheath tumors and considerable clinical heterogeneity. Some translational studies have been limited by the lack of animal models available for assessing patient-specific mutations. In order to test therapeutic approaches that might restore function to the mutated gene or gene product, we develop...
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Background Neurofibromatosis is an autosomal dominant disease. It affects one in 2,700 to 3,300 people. The main gene mutated in the disease is a tumor suppressor protein called neurofibromin. There are several categories, the most important of which is divided into two types of type I and type 2 neurofibromatosis. Here, we aimed to identify th...
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Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders in humans. NF1 is caused by mutations in the NF1 gene which consists of 57 exons and encodes a GTPase activating protein (GAP), neurofibromin. To date, more than 640 different NF1 mutations have been identified and registered in the Human Gene Mutation Database (HGMD). In order to assess the NF1 mutational spe...
متن کاملChoroidal Abnormalities Detected by Near-Infrared Imaging (NIR) in Pediatric Patients With Neurofibromatosis Type 1 (NF1).
We appreciate the comments by Vagge et al. on our article on choroidal abnormalities related to neurofibromatosis type 1 (NF1) in pediatric patients, aimed at evaluating the diagnostic performance of this new clinical sign as a diagnostic criterion for NF1. The authors have published an interesting paper on this topic, not included in our discussion because it was unavailable at time of manuscr...
متن کاملRNA processing and clinical variability in neurofibromatosis type I (NF1).
Neurofibromatosis type 1 (NF1) is a common genetic disorder which predisposes affected individuals to a variety of clinical features including tumors of the central and peripheral nervous systems. The product of the NF1 gene, neurofibromin, is a tumor suppressor which most likely acts through the interaction of its GTPase activating protein (GAP) related domain (GRD) with RAS to regulate cellul...
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ژورنال
عنوان ژورنال: Genetics and Molecular Research
سال: 2015
ISSN: 1676-5680
DOI: 10.4238/2015.july.27.21