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Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome

  • Authors:
    • Anh Lan Thi Luong
    • Thuong Thi Ho
    • Ha Hoang
    • Trung Quang Nguyen
    • Tu Cam Ho
    • Phan Duc Tran
    • Thuy Thi Hoang
    • Nam Trung Nguyen
    • Hoang Ha Chu
  • View Affiliations / Copyright

    Affiliations: Hanoi Medical University, Kim Lien, Đong Đa, Ha Noi 10000, Vietnam, National Key Laboratory of Gene Technology, Institute of Biotechnology, Vietnam Academy of Science and Technology, Cau Giay, Ha Noi 10000, Vietnam
    Copyright: © Luong et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 107-112
    |
    Published online on: January 3, 2019
       https://doi.org/10.3892/br.2019.1181
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Abstract

Crouzon syndrome is a rare autosomal dominant genetic disorder, which causes the premature fusion of the cranial suture. Fibroblast growth factor receptor 2 (FGFR2) mutations are well‑known causatives of Crouzon syndrome. The current study aimed to assess the FGFR2 gene associated with Crouzon syndrome in a Vietnamese family of three generations and to characterize their associated clinical features. The family included in the present study underwent complete clinical examination. A patient was clinically examined and presented with typical features of Crouzon syndrome including craniosynostosis, shallow orbits, ocular proptosis and midface hypoplasia. However the patient had normal hands and feet, a normal hearing ability and normal intelligence. Genomic DNA collected from all family members (except from a 16 week‑old‑foetus) and 200 unrelated control subjects from the same population was extracted from leukocytes obtained from peripheral blood samples. Genomic DNA was extracted from the 16‑week‑old foetus via the amniotic fluid of the mother. All coding sequences of FGFR2 were amplified via polymerase chain reaction and directly sequenced. A heterozygous FGFR2 missense mutation (c.1012G>C, p.G338R) in exon 10 was identified in the patient with Crouzon but not in other family members, the 16 week‑old‑foetus or the controls. This mutation was therefore determined to be the causative agent of Crouzon syndrome. In addition, a novel heterozygous silent mutation (c.1164C>T, p.I388I) in exon 11 of the FGFR2 gene was identified in the patient with Crouzon, his mother and the 16‑week‑old fetus, but not in other family members. The mutation in exon 10 of FGRF2 was confirmed via restriction‑enzyme digestion. The gain of the BsoBI site confirmed the FGFR2 mutation in exon 10 of the patient with Crouzon. This molecular finding may provide useful information to aid clinicians in the diagnosis of Crouzon syndrome and may also aid early prenatal diagnoses.
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Copy and paste a formatted citation
Spandidos Publications style
Luong AL, Ho TT, Hoang H, Nguyen TQ, Ho TC, Tran PD, Hoang TT, Nguyen NT and Chu HH: Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome. Biomed Rep 10: 107-112, 2019.
APA
Luong, A.L., Ho, T.T., Hoang, H., Nguyen, T.Q., Ho, T.C., Tran, P.D. ... Chu, H.H. (2019). Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome. Biomedical Reports, 10, 107-112. https://doi.org/10.3892/br.2019.1181
MLA
Luong, A. L., Ho, T. T., Hoang, H., Nguyen, T. Q., Ho, T. C., Tran, P. D., Hoang, T. T., Nguyen, N. T., Chu, H. H."Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome". Biomedical Reports 10.2 (2019): 107-112.
Chicago
Luong, A. L., Ho, T. T., Hoang, H., Nguyen, T. Q., Ho, T. C., Tran, P. D., Hoang, T. T., Nguyen, N. T., Chu, H. H."Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome". Biomedical Reports 10, no. 2 (2019): 107-112. https://doi.org/10.3892/br.2019.1181
Copy and paste a formatted citation
x
Spandidos Publications style
Luong AL, Ho TT, Hoang H, Nguyen TQ, Ho TC, Tran PD, Hoang TT, Nguyen NT and Chu HH: Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome. Biomed Rep 10: 107-112, 2019.
APA
Luong, A.L., Ho, T.T., Hoang, H., Nguyen, T.Q., Ho, T.C., Tran, P.D. ... Chu, H.H. (2019). Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome. Biomedical Reports, 10, 107-112. https://doi.org/10.3892/br.2019.1181
MLA
Luong, A. L., Ho, T. T., Hoang, H., Nguyen, T. Q., Ho, T. C., Tran, P. D., Hoang, T. T., Nguyen, N. T., Chu, H. H."Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome". Biomedical Reports 10.2 (2019): 107-112.
Chicago
Luong, A. L., Ho, T. T., Hoang, H., Nguyen, T. Q., Ho, T. C., Tran, P. D., Hoang, T. T., Nguyen, N. T., Chu, H. H."Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome". Biomedical Reports 10, no. 2 (2019): 107-112. https://doi.org/10.3892/br.2019.1181
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