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Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report.
J Med Case Rep. 2019 Aug 07; 13(1):244.JM

Abstract

BACKGROUND

Apert syndrome, Online Mendelian Inheritance in Man number 101200, is a rare genetic condition, with autosomal dominant inheritance, characterized by craniosynostosis, midfacial malformation, and severe symmetrical syndactyly. Apert syndrome is associated with other systemic malformations, including intellectual disability. At least seven mutations in fibroblast growth factor receptor 2 (FGFR2) gene have been found to cause Apert syndrome. Most cases of Apert syndrome are caused by one of the two most frequent mutations located in exon 7 (Ser252Trp or Pro253Arg).

CASE PRESENTATION

A 27-year-old Javanese man presented borderline intellectual functioning and striking dysmorphisms. A clinical diagnosis of Apert syndrome was previously made based on these clinical features. Furthermore, POSSUM software was used before molecular analysis and the result showed suspected Apert syndrome with a cut-off point of 14. Molecular genetic analysis of FGFR2, targeting exon 7, was performed by direct sequencing. In this patient, a missense mutation c.755C>G was detected, changing a serine into a tryptophan (p.Ser252Trp).

CONCLUSION

We report the case of an Indonesian man with Apert syndrome with a c.755C>G (p.Ser252Trp) mutation in the FGFR2 gene. Our patient showed similar dysmorphism to previously reported cases, although cleft palate as a typical feature for p.Ser252Trp mutation was not present. In spite of the accessibility of molecular genetic testing in a few parts of the world, the acknowledgement of clinically well-defined syndromes will remain exceptionally imperative in developing countries with a lack of diagnostic facilities.

Authors+Show Affiliations

Department of Medical Biology, Division of Human Genetics, Faculty of Medicine, Swadaya Gunung Jati University, Jalan Terusan Pemuda No.1A, Cirebon, West Java, 45132, Indonesia. garabrajadenta@gmail.com. EA3808 Neurovascular Unit and Cognitive Impairments, University of Poitiers Pole Biologie - Sante (B.36), 1, rue Georges Bonnet, 86073, Poitiers Cedex, France. garabrajadenta@gmail.com.Department of Medical Biology, Division of Human Genetics, Faculty of Medicine, Swadaya Gunung Jati University, Jalan Terusan Pemuda No.1A, Cirebon, West Java, 45132, Indonesia.Department of Medical Biology, Division of Human Genetics, Faculty of Medicine, Swadaya Gunung Jati University, Jalan Terusan Pemuda No.1A, Cirebon, West Java, 45132, Indonesia.Department of Medical Biology, Division of Human Genetics, Faculty of Medicine, Swadaya Gunung Jati University, Jalan Terusan Pemuda No.1A, Cirebon, West Java, 45132, Indonesia.EA3808 Neurovascular Unit and Cognitive Impairments, University of Poitiers Pole Biologie - Sante (B.36), 1, rue Georges Bonnet, 86073, Poitiers Cedex, France.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

31387623

Citation

Brajadenta, Gara Samara, et al. "Molecular Analysis of Exon 7 of the Fibroblast Growth Factor Receptor 2 (FGFR2) Gene in an Indonesian Patient With Apert Syndrome: a Case Report." Journal of Medical Case Reports, vol. 13, no. 1, 2019, p. 244.
Brajadenta GS, Sari AIP, Nauphar D, et al. Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report. J Med Case Rep. 2019;13(1):244.
Brajadenta, G. S., Sari, A. I. P., Nauphar, D., Pratamawati, T. M., & Thoreau, V. (2019). Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report. Journal of Medical Case Reports, 13(1), 244. https://doi.org/10.1186/s13256-019-2173-x
Brajadenta GS, et al. Molecular Analysis of Exon 7 of the Fibroblast Growth Factor Receptor 2 (FGFR2) Gene in an Indonesian Patient With Apert Syndrome: a Case Report. J Med Case Rep. 2019 Aug 7;13(1):244. PubMed PMID: 31387623.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report. AU - Brajadenta,Gara Samara, AU - Sari,Ariestya Indah Permata, AU - Nauphar,Donny, AU - Pratamawati,Tiar Masykuroh, AU - Thoreau,Vincent, Y1 - 2019/08/07/ PY - 2018/03/06/received PY - 2019/06/24/accepted PY - 2019/8/8/entrez PY - 2019/8/8/pubmed PY - 2020/1/31/medline KW - Apert syndrome KW - FGFR2 mutation KW - Indonesian patient SP - 244 EP - 244 JF - Journal of medical case reports JO - J Med Case Rep VL - 13 IS - 1 N2 - BACKGROUND: Apert syndrome, Online Mendelian Inheritance in Man number 101200, is a rare genetic condition, with autosomal dominant inheritance, characterized by craniosynostosis, midfacial malformation, and severe symmetrical syndactyly. Apert syndrome is associated with other systemic malformations, including intellectual disability. At least seven mutations in fibroblast growth factor receptor 2 (FGFR2) gene have been found to cause Apert syndrome. Most cases of Apert syndrome are caused by one of the two most frequent mutations located in exon 7 (Ser252Trp or Pro253Arg). CASE PRESENTATION: A 27-year-old Javanese man presented borderline intellectual functioning and striking dysmorphisms. A clinical diagnosis of Apert syndrome was previously made based on these clinical features. Furthermore, POSSUM software was used before molecular analysis and the result showed suspected Apert syndrome with a cut-off point of 14. Molecular genetic analysis of FGFR2, targeting exon 7, was performed by direct sequencing. In this patient, a missense mutation c.755C>G was detected, changing a serine into a tryptophan (p.Ser252Trp). CONCLUSION: We report the case of an Indonesian man with Apert syndrome with a c.755C>G (p.Ser252Trp) mutation in the FGFR2 gene. Our patient showed similar dysmorphism to previously reported cases, although cleft palate as a typical feature for p.Ser252Trp mutation was not present. In spite of the accessibility of molecular genetic testing in a few parts of the world, the acknowledgement of clinically well-defined syndromes will remain exceptionally imperative in developing countries with a lack of diagnostic facilities. SN - 1752-1947 UR - https://www.unboundmedicine.com/medline/citation/31387623/Molecular_analysis_of_exon_7_of_the_fibroblast_growth_factor_receptor_2__FGFR2__gene_in_an_Indonesian_patient_with_Apert_syndrome:_a_case_report_ L2 - https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-019-2173-x DB - PRIME DP - Unbound Medicine ER -