Molecular analysis of two pediatric cases with sporadic neurofibromatosis type 1

Objective To report on two children manifesting multiple cafe-au-lait spots suspected as neurofibromatosis type 1, and perform NF1 gene mutation analysis. Methods Blood samples were collected from the 2 children, their unaffected parents and 100 normal controls. The entire coding region of the NF1 gene was amplified by PCR and subjected to direct sequencing. Results In patient 1, a novel frameshift mutation c. 1948delT (p.Leu650TyrfsX38) was identified in exon 12 of the NF1 gene. And in patient 2, a previously reported nonsense mutation c. 541C>T (p.Gln181X) was revealed in exon 4b. The same mutations were not detected in their unaffected parents or 100 normal controls. Conclusion The two patients were diagnosed with neurofibromatosis type 1 by molecular genetic testing. The pathogenic mutations were c. 1948delT and c. 541C>T, respectively. Key words: Neurofibromatosis type 1; NF1 gene; Mutation analysis