Zhao Xiaoyan, Cai Liangqi, Zhang Linglin, Wang Peiru, Zhang Guolong
Department of Dermatology, the First Affiliated Hospital, Xiamen University, Xiamen, Fujian 361003, China.
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.
To explore the genetic basis for a sporadic case with neurofibromatosis type 1 (NF1).
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.
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.
The c.4339C>T (p.Q1447X) variant probably underlies the pathogenesis of NF1 in this patient.
