Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1

  • Wen Wang
  • Weibing Qin
  • Hongsong Ge
  • Xiangsheng Kong
  • Chao Xie
  • Yunge TangEmail author
  • Ming LiEmail author
Original Article


Neurofibromatosis type 1 (NF1) is a common autosomal dominant tumor-predisposition disorder that mainly impacts the nervous system and skin. Since the full clinical presentation of NF1 depends on age, it can be difficult to make an early and definite diagnosis in paediatric patients without family history who only exhibited multiple cafè-au-lait spots, highlighting the need for mutational analysis. A combination of techniques was conducted in 30 families with NF1, including multi-gene panels, direct sequencing, cDNA sequencing and multiplex ligation-dependent probe amplification. Thirty variants were identified in 36 patients from the 30 families, among which ten variants were novel. As a result, we confirmed that the combination of techniques were highly accurate and sensitive for identifying pathogenic variants in patients clinically suspected of having NF1, in particular, for patients who only present with multiple cafè-au-lait spots.


Neurofibromatosis type 1 NF1 Multi-gene panel cDNA sequencing Multiplex ligation-dependent probe amplification 



We thank all the patients and their families for their ongoing participation in this study. This work was supported by the research fund of Anhui Medical University (No. 2017xkj061); the research fund of the Fourth Affiliated Hospital of Anhui Medical University (No. FXY2014Y03); the open project of NHC Key Laboratory of Male Reproduction and Genetics (No. KF201703).

Compliance with ethical standards

Conflict of interest

All authors declare no conflict of interest.


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Copyright information

© Springer Nature B.V. 2019

Authors and Affiliations

  1. 1.Departments of Dermatology and VenereologyThe Fourth Affiliated Hospital of Anhui Medical UniversityHefeiChina
  2. 2.NHC Key Laboratory of Male Reproduction and GeneticsFamily Planning Research Institute of Guangdong ProvinceGuangzhouChina
  3. 3.Departments of DermatologyAnhui Provincial Children’s HospitalHefeiChina
  4. 4.Shanghai Aberlong Biotechnology Co. LtdShanghaiChina
  5. 5.Department of PaediatricsThe First People’s Hospital of HefeiHefeiChina
  6. 6.Departments of DermatologyXin Hua Hospital Affiliated to Shanghai Jiao Tong University School of MedicineShanghaiChina

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