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Updated: Dec 12, 2025
An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas
Published on: October 10, 2025
[Analysis of NF1 gene variant in a sporadic case with neurofibromatosis type 1]
Xiaoyan Zhao1, Liangqi Cai, Linglin Zhang
1Department of Dermatology, the First Affiliated Hospital, Xiamen University, Xiamen, Fujian 361003, China. zglamu@163.com.
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.
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