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

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Abstract

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.

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Acknowledgements

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).

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  1. Wen Wang and Weibing Qin contributed equally to this work.

Authors and Affiliations

  1. Departments of Dermatology and Venereology, The Fourth Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China

    Wen Wang

  2. NHC Key Laboratory of Male Reproduction and Genetics, Family Planning Research Institute of Guangdong Province, Guangzhou, China

    Weibing Qin & Yunge Tang

  3. Departments of Dermatology, Anhui Provincial Children’s Hospital, Hefei, Anhui, China

    Hongsong Ge

  4. Shanghai Aberlong Biotechnology Co. Ltd, Shanghai, China

    Xiangsheng Kong

  5. Department of Paediatrics, The First People’s Hospital of Hefei, Hefei, Anhui, China

    Chao Xie

  6. Departments of Dermatology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China

    Ming Li

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  1. Wen Wang
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  3. Hongsong Ge
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Correspondence to Yunge Tang or Ming Li.

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Wang, W., Qin, W., Ge, H. et al. Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1. Mol Biol Rep 46, 4349–4359 (2019). https://doi.org/10.1007/s11033-019-04888-3

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