Mutation Analysis of NF2 Gene in a Chinese Neurofibromatosis lype 2 Kindred

Objective: To elucidate the molecular mechanism of neurofibromatosis type 2 (NF2) with autosomal dominant inheritance disease in a Chinese kindred. Methods: The entire coding region (from exon 1 through 17) of the NF2 gene was amplified using Polymerase chain reaction (PCR) and evaluated for mutations using direct sequencing of the PCR products. PCR-restriction fragment length posymor-phism (PCR-RFLP) was performed to exclude the possibility of NF2 polymorphism in 100 normal control individuals. Results: The clinical and pathologic features including electron microscope examination established the diagnosis of NF2. A novel point mutation (1446 +1g→a) at the boundary of exon 13 and intron 13 was identified, which leads to an altered splice donor site and aberrant coding DNA sequence. Conclusion:The de novo splice donor point mutation in intron 13 of NF2 gene which causes the production of a substantially truncated protein is related to the tumorigenesis of NF2.