Polgár Noémi, Komlósi Katalin, Hadzsiev Kinga, Illés Tamás, Melegh Béla
Pécsi Tudományegyetem, Általános Orvostudományi Kar Orvosi Genetikai Intézet Pécs Szigeti u. 12. 7624.
Orv Hetil. 2011 Mar 13;152(11):415-9. doi: 10.1556/OH.2011.29059.
Type 1 neurofibromatosis is an autosomal dominant hamartosis, caused by mutations of the gene neurofibromin-1. The variable clinical phenotype is characterized by café-au-lait spots, benign neurofibromas, axillary, inguinal hyperpigmentations, iris hamartomas, skeletal deformities and risk of neurofibroma-development. Pathogenic variations of neurofibromin-1 arise as de novo mutations in approx. 50% of the cases.
Molecular genetic testing of neurofibromin-1 gene has been performed in our department since 2008; the following report summarizes our experiences.
40 patients, presenting symptoms of type 1 neurofibromatosis, were screened by sequencing or multiplex ligation-dependent probe amplification.
Pathogenic alterations were identified in 31 cases, 8 patients presented novel mutations. In 8 affected, no mutations were detected by sequencing; one of these patients had a deletion affecting the entire gene.
Sequencing of the neurofibromin-1 gene and screening for rearrangements are useful in identifying pathogenic alterations in most of the cases.
1型神经纤维瘤病是一种常染色体显性错构瘤病，由神经纤维瘤蛋白-1基因的突变引起。其临床表型多样，特征为咖啡牛奶斑、良性神经纤维瘤、腋窝和腹股沟色素沉着、虹膜错构瘤、骨骼畸形以及神经纤维瘤发生风险。神经纤维瘤蛋白-1的致病性变异约50%为新发突变。
自2008年起，我们科室开展了神经纤维瘤蛋白-1基因的分子遗传学检测；以下报告总结了我们的经验。
对40例出现1型神经纤维瘤病症状的患者进行测序或多重连接依赖探针扩增检测。
31例检测到致病性改变，8例患者出现新突变。8例受影响患者测序未检测到突变；其中1例患者存在影响整个基因的缺失。
神经纤维瘤蛋白-1基因测序及重排筛查在大多数病例中有助于识别致病性改变。
