Analysis of NF1 gene variant in a sporadic case with neurofibromatosis type 1 / 中华医学遗传学杂志

ABSTRACT

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.