Tags

Type your tag names separated by a space and hit enter

[FGFR2 gene mutation in a Chinese patient with Apert syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Dec; 27(6):682-4.ZY

Abstract

OBJECTIVE

To determine the disease-causing mutation in a Chinese patient with Apert syndrome (AS).

METHODS

Genomic DNA was extracted from peripheral blood samples of the AS patient and his parents. Polymerase chain reaction (PCR) was used to amplify the exons 7 and 9 of fibroblast growth factor receptor 2 (FGFR2) gene. Then PCR products were sequenced bi-directionally.

RESULTS

A heterozygous 934C to G transversion in exon 7 of the FGFR2 gene was detected in the patient, which resulted in the substitution of tryptophan residue for serine at position 252 of FGFR2 protein (S252W). This mutation has been reported in AS patients previously.

CONCLUSION

This Chinese AS results from the 934 C to G mutation in exon 7 of FGFR2 gene.

Authors+Show Affiliations

National Center for Birth Defect Monitoring, Ministerial Key Laboratory of Women and Children's Diseases and Birth Defects, Laboratory of Molecular Epidemiology of Birth Defects, West China Institutes for Women and Children's Health, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, P.R. China. daili_diamondlaser@126.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article
Research Support, Non-U.S. Gov't

Language

chi

PubMed ID

21154333

Citation

Dai, Li, et al. "[FGFR2 Gene Mutation in a Chinese Patient With Apert Syndrome]." Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, vol. 27, no. 6, 2010, pp. 682-4.
Dai L, Li NN, Yuan YM, et al. [FGFR2 gene mutation in a Chinese patient with Apert syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010;27(6):682-4.
Dai, L., Li, N. N., Yuan, Y. M., Liu, Y., & Zhu, J. (2010). [FGFR2 gene mutation in a Chinese patient with Apert syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 27(6), 682-4. https://doi.org/10.3760/cma.j.issn.1003-9406.2010.06.018
Dai L, et al. [FGFR2 Gene Mutation in a Chinese Patient With Apert Syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010;27(6):682-4. PubMed PMID: 21154333.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [FGFR2 gene mutation in a Chinese patient with Apert syndrome]. AU - Dai,Li, AU - Li,Na-na, AU - Yuan,Yu-mei, AU - Liu,Yong, AU - Zhu,Jun, PY - 2010/12/15/entrez PY - 2010/12/15/pubmed PY - 2011/3/12/medline SP - 682 EP - 4 JF - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics JO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi VL - 27 IS - 6 N2 - OBJECTIVE: To determine the disease-causing mutation in a Chinese patient with Apert syndrome (AS). METHODS: Genomic DNA was extracted from peripheral blood samples of the AS patient and his parents. Polymerase chain reaction (PCR) was used to amplify the exons 7 and 9 of fibroblast growth factor receptor 2 (FGFR2) gene. Then PCR products were sequenced bi-directionally. RESULTS: A heterozygous 934C to G transversion in exon 7 of the FGFR2 gene was detected in the patient, which resulted in the substitution of tryptophan residue for serine at position 252 of FGFR2 protein (S252W). This mutation has been reported in AS patients previously. CONCLUSION: This Chinese AS results from the 934 C to G mutation in exon 7 of FGFR2 gene. SN - 1003-9406 UR - https://www.unboundmedicine.com/medline/citation/21154333/[FGFR2_gene_mutation_in_a_Chinese_patient_with_Apert_syndrome]_ L2 - http://www.diseaseinfosearch.org/result/544 DB - PRIME DP - Unbound Medicine ER -