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

INTRODUCTION

Neurofibromatosis type 1 (NF1) [MIM# 162200] is a rare, autosomal dominant neurocutaneous disease. Neuro-fibromatosis type 1 manifests with neurofibroma (fibromatous skin tumors), café-au-lait spots and skin fold freckling [1]. Neurofibromatosis type 1 patients usually present with extreme inter- and intra-familial phenotypic variability with an incidence of 1/3500 live births [1]. Germline mutations in the NF1 gene causes NF1. The NF1 gene encodes neurofibromin consisting of 2818 amino acids, highly expressed in neurons and different types of neuronal cells. In addition, neurofibromin activates protein by down-regulating the function of the renin-angiotensin system (RAS) [1].

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