[Analysis of NF1 gene variant in a sporadic case with neurofibromatosis type 1].
作者信息
Zhao Xiaoyan, Cai Liangqi, Zhang Linglin, Wang Peiru, Zhang Guolong
机构信息
Department of Dermatology, the First Affiliated Hospital, Xiamen University, Xiamen, Fujian 361003, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Aug 10;37(8):871-874. doi: 10.3760/cma.j.issn.1003-9406.2020.08.016.
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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