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

REFERENCES

1. Banerjee S, Dai Y, Liang S, Chen H, Wang Y, Tang L, et al. A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family. J Clin Neurosci. 2016; 31(9): 182-184. 2. Stumpf DA, Alksne JF, Annegers JF. Neurofibromatosis. Conference statement. Presented at the National Institutes of Health Consensus Development Conference, held at the National Institutes of Health in Bethesda, MD, USA on July 13-15 1987. Arch Neurol 1998;45(5): 575-578. 3. Yang L, Banerjee S, Cao J, Bai X, Peng Z, Chen H, et al. Compound heterozygous variants in the coiledcoil domain containing 40 gene in a Chinese family with primary ciliary dyskinesia cause extreme phenotypic diversity in cilia ultrastructure. Front Genet. 2018; 9(2): 23. doi: 10.3389/fgene.2018.00023. eCollection 2018. 4. Pasmant E, Parfait B, Luscan A, Goussard P, Briand- Suleau A, Laaaaurendeau I, et al. Neurofibromatosis type 1 molecular diagnosis: What can NGS do for you when you have a large gene with loss of function mutations? Eur J Hum Genet 2015; 23(5): 596-601. 5. Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol. 2009; 61(1): 1-14. 6. Banerjee S, Lei D, Liang S, Yang L, Liu S, Wei Z, et al. Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia. Oncotarget. 2017; 8(24): 39695-39702.

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