Analysis of NF1 gene mutations in two sporadic patients with neurofibromatosis type 1 / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect mutations of the NF1 gene in two sporadic cases with neurofibromatosis type 1 (NF1) and explore their molecular mechanisms.</p><p><b>METHODS</b>Clinical data of the two patients was collected. Genomic DNA was extracted from peripheral blood samples. Specific primers were designed to exclude pseudogenes. PCR was performed to amplify all coding exons of the NF1 gene. PCR products were directly sequenced.</p><p><b>RESULTS</b>Two novel mutations of the NF1 gene (c.1019-1020delCT in exon 9 and c.7189G to A in exon 48) were respectively identified in the two patients but not among their unaffected parents or 100 healthy controls.</p><p><b>CONCLUSION</b>Mutations of the NF1 gene may have predisposed to the NF1 in the two patients.</p>