Phenotypic heterogeneity of neurofibromatosis type 1 in a large international registry
| العنوان: | Phenotypic heterogeneity of neurofibromatosis type 1 in a large international registry |
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| المؤلفون: | Shufeng Li, Annette Bakker, Kavita Y. Sarin, Mika M. Tabata, Pamela Knight |
| المصدر: | JCI Insight, Vol 5, Iss 16 (2020) JCI Insight |
| بيانات النشر: | American Society for Clinical investigation, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | 0301 basic medicine, Adult, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Adolescent, Malignant peripheral nerve sheath tumor, Comorbidity, Dermatology, Spinal neurofibromas, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Prevalence, Neurofibroma, Humans, Genetic variation, Registries, Neurofibromatosis, neoplasms, Aged, Neurofibromin 1, business.industry, Genetic heterogeneity, Genetic disorder, General Medicine, Phenotypic trait, Middle Aged, medicine.disease, nervous system diseases, 030104 developmental biology, Phenotype, Dysplasia, 030220 oncology & carcinogenesis, Mutation, Medicine, business, Neurological disorders, Research Article, Genetic diseases, Neuroscience |
| الوصف: | Neurofibromatosis type 1 (NF1) is a rare genetic disorder, characterized by the development of benign and malignant nerve tumors. Although all individuals with NF1 harbor genetic alterations in the same gene, the clinical manifestations of NF1 are extremely heterogeneous even among individuals who carry identical genetic defects. In order to deepen the understanding of phenotypic manifestations in NF1, we comprehensively characterized the prevalence of 18 phenotypic traits in 2051 adults with NF1 from the Children’s Tumor Foundation’s NF1 registry. We further investigated the coassociation of traits and found positive correlations between spinal neurofibromas and pain, spinal neurofibromas and scoliosis, spinal neurofibromas and optic gliomas, and optic gliomas and sphenoid wing dysplasia. Furthermore, with increasing numbers of cutaneous neurofibromas, the odds ratio of malignant peripheral nerve sheath tumor increased. Phenotypic clustering revealed 6 phenotypic patient cluster subtypes: mild, freckling predominant, neurofibroma predominant, skeletal predominant, late-onset neural severe, and early-onset neural severe, highlighting potential phenotypic subtypes within NF1. Together, our results support potential shared molecular pathogenesis for certain clinical manifestations and illustrate the utility of disease registries for understanding rare diseases. A large clinical phenotypic co-association and cluster analyses is reported for 2051 adult patients with Neurofibromatosis Type 1. |
| اللغة: | English |
| تدمد: | 2379-3708 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b2985be0c1f54c8a1ca7f5cb518d27dTest https://doaj.org/article/097c0850c842415abb2e9486dc716821Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....6b2985be0c1f54c8a1ca7f5cb518d27d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 23793708 |
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