Izabela Laczmańska, Małgorzata Szczepaniak, Aleksandra Jakubiak, Agnieszka Stembalska
BACKGROUND: Neurofibromatosis type I (NF1, Recklinghausen's disease) is an autosomal dominant disorder characterized by the following clinical features: café au lait spots, neurofibromas, Lisch nodules, freckling of the axillary and inguinal regions, optic nerve gliomas, bone dysplasia and increased risk of certain tumors. NF1 is diagnosed on the basis of clinical criteria, while identifying the genetic background of the disease is important mainly for genetic counseling. NF1 genetic analysis is based on searching for NF1 exon deletions/duplications using Multiplex ligation-dependent probe amplification (MLPA), searching for microdeletions of the critical region using fluorescence in situ hybridization (FISH), searching for point mutations by gene sequencing (in most cases) and analyzing mRNA...
July 2014: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University