Balkan Journal of Medical Genetics

NEXT GENERATION SEQUENCING IDENTIFIED A NOVEL MULTI EXON DELETION OF THE NF1 GENE IN A CHINESE PEDIGREE WITH NEUROFIBROMATOSIS TYPE 1
Yang J, An J-X, Liu X-L, Wang Z-Q, Xie G-M, Yang X-L, Xu S-J, Feng F, Ni Y -- Jie Yang and Jinxia An contributed equally to this study.
*Corresponding Author: Dr. Yali Ni, Gansu Provincial Maternity and Child-Care Hospital, 143 Qilihe North Street, LanZhou, Gansu Province, 730050, People’s Republic of China. Tel.: +86-0931-2231241. E-mail: niyali@126.com
page: 45

DISCUSSION

Neurofibromatosis type 1 is a rare neurocutaneous inherited genetic disease caused by germline mutations in the NF1 gene. In the human genome, NF1 is one of the largest genes with a very high mutation rate with extreme mutational heterogeneity. Over 1000 germline (missense, deletion, insertion, nonsense, splice site mutations) mutations of the NF1 gene have been reported so far [4]. In this study, the novel heterozygous multi exon deletion causes the formation of a truncated neurofibromin which affects the normal function of the NF1 gene. Neurofibromatosis type 1 patients usually presented with two major clinical symptoms; i.e., neurofibromata and the café-au-lait spots, which increase in number and gradually developed into larger spots with increasing age. Hence, a clear gradient or degree of phenotypic variation is common in affected individuals of the same family [5]. Recently, in their two studies, Banerjee et al. [1,6] reported that clinical manifestations for NF1 patients are extremely heterogenous, even associated with astrocytoma, tibial pseudarthrosis and anemia. In this study, we showed that the proband and his mother presented with severe and mild phenotypes, respectively, although they carry the same mutation. Moreover, in addition of the genetic factors, there are also epigenetic factors that influence the phenotypic heterogeneity in NF1 patients [1]. In conclusion, we identified a Chinese family with NF1. Next generation sequencing and qPCR identified a novel heterozygous multi exon deletion c.(4661+1_4662- 1)_(5748+1_5749-1)del; (EX36_39DEL) on the NF1 gene causing NF1 in this family. We have added a heterozygous novel NF1 mutation associated with an NF1 phenotype as well as understanding the signification of the application of NGS for rapid and accurate screening of the specific disease-associated genes that provide the correct clinical diagnosis for NF1.

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