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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.


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).

SUBMITTER: J Y 

PROVIDER: S-EPMC6454241 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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

J Yang Y   J-X An A   X-L Liu L   Z-Q Wang W   G-M Xie X   X-L Yang Y   S-J Xu X   F Feng F   Y Ni N  

Balkan journal of medical genetics : BJMG 20181231 2


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 <i>NF 1</i> gene causes NF1. The <i>NF 1</i> 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  ...[more]

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