The R1947X mutation of NF1 causing autosomal dominant neurofibromatosis type 1 in a Chinese family

Qinbo Yang; Changzheng Huang; Xiaoying Yang; Yinfu Feng; Qing Wang; Mugen Liu

doi:10.1016/S1673-8527(08)60011-9

Volume 35 Issue 2

Feb. 2008

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Article Navigation > Journal of Genetics and Genomics > 2008 > 35(2): 73-76

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The R1947X mutation of NF1 causing autosomal dominant neurofibromatosis type 1 in a Chinese family

doi: 10.1016/S1673-8527(08)60011-9

a
Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan 430074, China
b
Department of Dermatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China
c
Department of Dermatology, the First People's Hospital of Xian Tao City, Xiantao 433000, China

More Information

Corresponding author: E-mail address: lium@mail.hust.edu.cn (Mugen Liu)
Received Date: 2007-06-20
Accepted Date: 2007-10-25
Rev Recd Date: 2007-10-24

Available Online: 2008-04-11

Publish Date: 2008-02-20

Abstract

Abstract

Neurofibromatosis type 1 is a common autosomal dominant disorder with a high rate of penetrance. It is caused by the mutation of the tumor suppressor geneNF1, which encodes neurofibromin. The main function of neurofibromin is down-regulating the biological activity of the proto-oncoprotein Ras by acting as a Ras-specific GTPase activating protein. In this study, we identified a Chinese family affected with neurofibromatosis type 1. The known gene NF1 associated with NF1 was studied by linkage analysis and by direct sequencing of the entire coding region and exon-intron boundaries of the NF1 gene. The R1947X mutation of NF1 was identified, which was co-segregated with affected individuals in the Chinese family, but not present in unaffected family members. This is the first report, which states that the R1947X mutation of NF1 may be one of reasons for neurofibromatosis type 1 in Chinese population.
- neurofibromatosis type 1,
- neurofibromin,
- R1947X mutation

Equally contributed to this work.

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References(24)

References

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