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. 2018 Dec 31;21(2):45-48.
doi: 10.2478/bjmg-2018-0019. eCollection 2018 Dec.

Next Generation Sequencing Identified a Novel Multi Exon Deletion of the NF1 Gene in a Chinese Pedigree with Neurofibromatosis Type 1

Yang J  1 , An J-X  1 , Liu X-L  1 , Wang Z-Q  1 , Xie G-M  1 , Yang X-L  2 , Xu S-J  1 , Feng F  1 , Ni Y  1
Affiliations

Next Generation Sequencing Identified a Novel Multi Exon Deletion of the NF1 Gene in a Chinese Pedigree with Neurofibromatosis Type 1

Yang J et al. Balkan J Med Genet. .

Abstract

Neurofibromatosis type 1 (NF1) is a genetic disease involving neurocutaneous abnormalities. Neurofibromatosis type 1 is an autosomal dominant disorder characterized by the neurofibromas and café-au-lait spots. Mutation in the NF 1 gene causes NF1. The NF 1 gene encodes neurofibromin. In this study, we found a 31-year-old Chinese boy with NF1. He presented only with café-au-lait spots over the whole body. The proband's mother had a severe phenotype with neurofibroma and café-au-lait macules over her whole body, mostly in the facial region. A novel multi exon deletion c.(4661+1_4662-1)_(5748+1_5749-1)del; [EX36_39DEL] on the NF 1 gene has been identified in the proband. Quantitative real-time polymerase chain reaction (qPCR) confirmed that this mutation is co-segregated well and was inherited from the proband's mother. The mutation was absent in the proband's father and normal individuals. The novel multi exon deletion results in the formation of a truncated NF1 protein that caused the NF1 phenotype in this family. Our present study also emphasized the significance of rapid, accurate and cost-effective screening for the patient with NF1 by next generation sequencing (NGS).

Keywords: Café-au-lai-spots; Multi-exon deletion; Neurofibromas; Neurofibromatosis type 1 (NF1); Next generation sequencing (NGS); Novel mutation.

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Figures

Figure 1
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
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
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).
See this image and copyright information in PMC

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