Metheny L J, Cappione A J, Skuse G R
Department of Medicine, University of Rochester School of Medicine and Dentistry, New York, USA.
J Neuropathol Exp Neurol. 1995 Nov;54(6):753-60. doi: 10.1097/00005072-199511000-00001.
Neurofibromatosis type I (NF1) is a common genetic disease which leads to a variety of clinical features affecting cells of neural crest origin. In the period since the NF1 gene was isolated in 1991, our understanding of the genetics of NF1 has increased remarkably. One of the most striking aspects of NF1 genetics is its complexity, both in terms of gene organization and expression. The gene is large and, when mutated, gives rise to diverse manifestations. A growing body of data suggests that mutations in the NF1 gene alone may not be responsible for all of the features of this disease. Epigenetic mechanisms, those which affect the NF1 transcript, play a role in the normal expression of the NF1 gene. Therefore, aberrations in those epigenetic processes are most likely pathogenic. Herein we summarize salient aspects of the vast body of NF1 literature and provide some insights into the myriad of regulatory mechanisms that may go awry in the genesis of this common but complex disease.
I型神经纤维瘤病（NF1）是一种常见的遗传病，可导致多种影响神经嵴起源细胞的临床特征。自1991年NF1基因被分离以来，我们对NF1遗传学的理解有了显著提高。NF1遗传学最显著的方面之一是其复杂性，无论是在基因组织还是表达方面。该基因很大，突变时会产生多种表现。越来越多的数据表明，仅NF1基因的突变可能并不负责该疾病的所有特征。表观遗传机制，即影响NF1转录本的机制，在NF1基因的正常表达中起作用。因此，这些表观遗传过程中的异常很可能具有致病性。在此，我们总结了大量NF1文献的突出方面，并对这种常见但复杂疾病发生过程中可能出现问题的众多调节机制提供一些见解。
