Patterns of associations of clinical features in neurofibromatosis 1 (NF1)

摘要: Neurofibromatosis 1 (NF1) is a common, fully penetrant autosomal dominant disease. The clinical course generally progressive but highly variable, and the pathogenesis poorly understood. We studied statistical associations among 13 of most common or important features in data from four separate sets NF1 patients: "developmental sample" 1,413 probands NNFF International Database, an independent "validation 1,384 same database, 511 affected relatives these probands, 441 patients population-based registry northwest England. developed logistic regressive models for each using developmental sample attempted to validate other three samples. Age gender were included as covariates all models. Models successfully validated ten analysed. results are consistent with grouping nine into sets: (1) cafe-au-lait spots, intertriginous freckling Lisch nodules; (2) cutaneous, subcutaneous plexiform neurofibromas; (3) macrocephaly, optic glioma neoplasms. In addition, three-way interactions neurofibromas indicate that first two groups not independent. Our studies show some individuals more likely than others develop certain Some appear share pathogenic mechanisms features.