Analysis of NF1 gene variant in a sporadic case with neurofibromatosis type 1
Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal Of Medical Genetics
Published:
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.
Conclusions: The c.4339C>T (p.Q1447X) variant probably underlies the pathogenesis of NF1 in this patient.
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