[Analysis of NF1 gene variant in a sporadic case with neurofibromatosis type 1].

OBJECTIVE

To explore the genetic basis for a sporadic case with neurofibromatosis type 1 (NF1).

METHODS

Peripheral blood samples were collected from the patient, his unaffected parents and 100 healthy controls. The NF1 gene was detected by PCR and direct sequencing.

RESULTS

The patient was found to carry a novel nonsense variant c.4339C>T (p.Q1447X) in exon 33 of the NF1 gene. The same variant was not found in his unaffected parents and the 100 healthy controls.

CONCLUSION

The c.4339C>T (p.Q1447X) variant probably underlies the pathogenesis of NF1 in this patient.