Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report

被引:4
作者
Brajadenta, Gara Samara [1 ,2 ]
Sari, Ariestya Indah Permata [1 ]
Nauphar, Donny [1 ]
Pratamawati, Tiar Masykuroh [1 ]
Thoreau, Vincent [2 ]
机构
[1] Swadaya Gunung Jati Univ, Fac Med, Dept Med Biol, Div Human Genet, Jalan Terusan Pemuda 1A, Cirebon 45132, West Java, Indonesia
[2] Univ Poitiers, EA3808 Neurovasc Unit & Cognit Impairments, Pole Biol Sante B36, 1 Rue Georges Bonnet, F-86073 Poitiers, France
关键词
Apert syndrome; FGFR2; mutation; Indonesian patient; MUTATIONS; AGE;
D O I
10.1186/s13256-019-2173-x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
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页数:6
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