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Case Reports
. 2012 May;28(5):721-7.
doi: 10.1007/s00381-011-1653-0. Epub 2011 Dec 30.

Screening for mutation site on the type I neurofibromatosis gene in a family

Ming Lv  1 , Wenhua Zhao, Lin Yan, Liang Chen, Kai Cui, Jie Gao, Fachang Yu, Sheng Li
Affiliations
Case Reports

Screening for mutation site on the type I neurofibromatosis gene in a family

Ming Lv et al. Childs Nerv Syst. 2012 May.

Abstract

Purpose: The purpose of the study was to determine the sites and types of mutations associated with type I neurofibromatosis (NF1) in the NF1 gene in a family with NF1 patients.

Methods: The blood samples obtained from this family (four patients and one normal healthy individual) were analyzed by performing polymerase chain reaction (PCR) and DNA sequencing for mutation screening.

Results: We found synonymous mutations in exons 7, 38, 50, and 56 of the NF1 gene. This implied that the third codon had a new SNP that did not lead to a change in the amino acid coding. The exon 19 mutation was CAG homozygous, while it was C/TAG heterozygous in normal individuals. The stop codon led to nonsense-codon-mediated decay of the mRNA (NMD), thus resulting in only one copy of the NF1 gene that encodes the normal protein in individuals.

Conclusions: The synonymous mutations in the NF1 gene occur in exons 7, 38, 50, and 56. The CAG homozygous mutations may occur in exon 19, and the C/TAG heterozygous mutations may occur in the others. This mutation may be responsible for NF1 in patients in this family and may warrant extensive research on the NF1 gene.

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Figures

Fig. 1
Fig. 1
A diagram showing the affected members of the family
Fig. 2
Fig. 2
Patient III 1. A diagram showing the affected members of the family axillary coffee-with-milk spots
Fig. 3
Fig. 3
Patient III 1. Postoperative pathological examination
Fig. 4
Fig. 4
Patient I 1. Neurofibroma on the anterior chest
Fig. 5
Fig. 5
Patient III 2. Dorsal neurofibroma surgery
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Fig. 6
Exon 19
See this image and copyright information in PMC

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References

    1. Ars E, Serra E, Garcia J, Kruyer H, Gaona A, Lazaro C, Estivill X. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet. 2000;9(2):237–247. doi: 10.1093/hmg/9.2.237. - DOI - PubMed
    1. Gu W, Zhang F, Lupski JR. Mechanisms for human genomic rearrangements. Pathogenetics. 2008;1(1):4. doi: 10.1186/1755-8417-1-4. - DOI - PMC - PubMed
    1. Huson SM, Harper PS, Compston DA. Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain. 1988;111(Pt 6):1355–1381. doi: 10.1093/brain/111.6.1355. - DOI - PubMed
    1. Kang H, Watkins G, Parr C, Douglas-Jones A, Mansel RE, Jiang WG. Stromal cell derived factor-1: its influence on invasiveness and migration of breast cancer cells in vitro, and its association with prognosis and survival in human breast cancer. Breast Cancer Res. 2005;7(4):R402–410. doi: 10.1186/bcr1022. - DOI - PMC - PubMed
    1. Kehrer-Sawatzki H, Kluwe L, Funsterer C, Mautner VF. Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2. Hum Genet. 2005;116(6):466–475. doi: 10.1007/s00439-005-1265-4. - DOI - PubMed

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