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Next generation sequencing identified a novel multi exon deletion of the NF1 gene in a Chinese pedigree with neurofibromatosis type 1 Cover

Next generation sequencing identified a novel multi exon deletion of the NF1 gene in a Chinese pedigree with neurofibromatosis type 1

Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 2 (December 2018)
By: J Yang,  J-X An,  X-L Liu,  Z-Q Wang,  G-M Xie,  X-L Yang,  S-J Xu,  F Feng and  Y Ni  
Open Access
|Dec 2018
Figures & tables

Figures & Tables

Figure 1

Pedigree of this Chinese family. The Chinese family is co-segregating with the NF1 mutation. Squares and circles indicate males and females, respectively; open symbols indicate unaffected individuals, filled symbols indicate affected individuals; arrows indicate the proband in this case.

Figure 2

Clinical descriptions. Shows several neurofibromas and café-au-lait macules on the proband’s (II-1) chest (A) and back (B). Shows many neurofibromas and café-au-lait macules on the proband’s mother’s face (C), back (D) and chest (E).

Figure 3

Mutation screening. Mutational analysis (NGS and q-PCR) of the NF 1 gene in this family. Next generation sequencing result was validated by qPCR in the proband (II-1), his father (I-1) and mother (I-2) (GenBank Accession: NM_000267.3).
DOI: https://doi.org/10.2478/bjmg-2018-0019 | Journal eISSN: 2199-5761
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Language: English
Page range: 45 - 48
Published on: Dec 31, 2018
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Café-au-lai-spots,
Multi-exon deletion,
Novel mutation,
Neurofibromas,
Neurofibromatosis type 1 (NF1),
Next generation sequencing (NGS)
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2018 J Yang, J-X An, X-L Liu, Z-Q Wang, G-M Xie, X-L Yang, S-J Xu, F Feng, Y Ni, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Volume 21 (2018): Issue 2 (December 2018)
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