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p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.
Singapore Med J. 2013 Mar; 54(3):e72-5.SM

Abstract

Apert syndrome (AS) is a rare autosomal dominant disorder characterised by craniosynostosis and limb malformations, and is associated with congenital heart disease and other systemic malformations, including intellectual disability. We report two Indonesian patients with AS, in whom molecular analysis detected p.Ser252Trp (c.755C>G) and p.Pro253Arg (c.758C>G) mutations in the fibroblast growth factor receptor 2 (FGFR2) gene, respectively. Although the syndrome has been frequently described, this is the first clinical report of AS confirmed by molecular analysis in Indonesia. The difference in severity of clinical features in the two patients may be consistent with a genotype-phenotype correlation of the FGFR2mutation. The management of individuals with AS is best achieved within a multidisciplinary setting. However, in most developing countries, early intervention may be delayed due to late diagnosis, a lack of facilities and financial constraints. This report underpins the benefits of early diagnosis for AS management.

Authors+Show Affiliations

Centre for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Dr Sutomo 14, Semarang, Indonesia.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

23546041

Citation

Mundhofir, Farmaditya E P., et al. "P.Ser252Trp and p.Pro253Arg Mutations in FGFR2 Gene Causing Apert Syndrome: the First Clinical and Molecular Report of Indonesian Patients." Singapore Medical Journal, vol. 54, no. 3, 2013, pp. e72-5.
Mundhofir FE, Sistermans EA, Faradz SM, et al. P.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients. Singapore Med J. 2013;54(3):e72-5.
Mundhofir, F. E., Sistermans, E. A., Faradz, S. M., & Hamel, B. C. (2013). P.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients. Singapore Medical Journal, 54(3), e72-5.
Mundhofir FE, et al. P.Ser252Trp and p.Pro253Arg Mutations in FGFR2 Gene Causing Apert Syndrome: the First Clinical and Molecular Report of Indonesian Patients. Singapore Med J. 2013;54(3):e72-5. PubMed PMID: 23546041.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients. AU - Mundhofir,Farmaditya E P, AU - Sistermans,Erik A, AU - Faradz,Sultana M H, AU - Hamel,Ben C J, PY - 2013/4/3/entrez PY - 2013/4/3/pubmed PY - 2013/12/24/medline SP - e72 EP - 5 JF - Singapore medical journal JO - Singapore Med J VL - 54 IS - 3 N2 - Apert syndrome (AS) is a rare autosomal dominant disorder characterised by craniosynostosis and limb malformations, and is associated with congenital heart disease and other systemic malformations, including intellectual disability. We report two Indonesian patients with AS, in whom molecular analysis detected p.Ser252Trp (c.755C>G) and p.Pro253Arg (c.758C>G) mutations in the fibroblast growth factor receptor 2 (FGFR2) gene, respectively. Although the syndrome has been frequently described, this is the first clinical report of AS confirmed by molecular analysis in Indonesia. The difference in severity of clinical features in the two patients may be consistent with a genotype-phenotype correlation of the FGFR2mutation. The management of individuals with AS is best achieved within a multidisciplinary setting. However, in most developing countries, early intervention may be delayed due to late diagnosis, a lack of facilities and financial constraints. This report underpins the benefits of early diagnosis for AS management. SN - 0037-5675 UR - https://www.unboundmedicine.com/medline/citation/23546041/p_Ser252Trp_and_p_Pro253Arg_mutations_in_FGFR2_gene_causing_Apert_syndrome:_the_first_clinical_and_molecular_report_of_Indonesian_patients_ L2 - http://www.sma.org.sg/UploadedImg/files/SMJ/5403/5403cr8.pdf DB - PRIME DP - Unbound Medicine ER -