title: p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.
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.affiliation: Centre for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Dr Sutomo 14, Semarang, Indonesia.
authors.forename: Farmaditya E P
authors.initials: FE
authors.lastname: Mundhofir
authors.forename: Erik A
authors.initials: EA
authors.lastname: Sistermans
authors.forename: Sultana M H
authors.initials: SM
authors.lastname: Faradz
authors.forename: Ben C J
authors.initials: BC
authors.lastname: Hamel
mesh_terms: D000168:Acrocephalosyndactylia / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics*; D001120:Arginine / Q000032:analysis; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D056726:Genetic Association Studies; D006801:Humans; D007214:Indonesia; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D011392:Proline / Q000032:analysis; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D012694:Serine / Q000032:analysis; D014364:Tryptophan / Q000032:analysis
chemical_list: D012694:Serine; D014364:Tryptophan; D001120:Arginine; D011392:Proline; C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2