ISSN 1306-0015 | E-ISSN 1308-6278
Case Report
Two patients with Apert syndrome with different mutations: the importance of early diagnosis
1 Ege University, Faculty of Medicine, Department of Pediatrics, Izmir, Turkey  
2 Ege University, Faculty of Medicine, Department Medical Genetics, Izmir, Turkey  
Turk Pediatri Ars 2017; 52: 231-235
DOI: 10.5152/TurkPediatriArs.2016.3305
Key Words: Apert syndrome, craniosynostosis, FGFR2
Abstract

Apert syndrome is an autosomal dominant craniosynostosis syndrome accompanied by limb anomalies. The fibroblast growth factor receptor 2 (FGFR2) gene is responsible for the disease and two different heterozygous mutations, p.Pro253Arg and p.Ser252Trp, have been defined as responsible in the majority of cases of Apert syndrome. In this case report, two patients with Apert syndrome with two different FGFR2 gene mutations are presented. Case-1, a 4-month-old boy with craniosynostosis and syndactyly was referred to pediatric genetic clinic. The molecular analysis revealed p.Pro253Arg mutation in the FGFR2 gene, which confirmed the diagnosis of Apert syndrome. Case-2, a 16-year-old girl with developmental delay, cleft palate, syndactyly, and craniosynostosis, was also diagnosed as having Apert syndrome. A molecular diagnosis identified a p.Ser252Trp heterozygous mutation in the FGFR2 gene. Case-1 underwent surgery for craniosynostosis at age 10 months and he was developmentally normal during the 2 year follow-up period. As a conclusion, early surgical intervention should be considered in cases of Apert syndrome to prevent intellectual disability.

 

Cite this article as: Işık E, Atik T, Onay H, Özkınay F. Two patients with Apert syndrome with different mutations: the importance of early diagnosis. Turk Pediatri Ars 2017; 52: 231-5.

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