p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients
Singapore medical journal
;
: e72-5, 2013.
Artigo
em Inglês
| WPRIM
| ID: wpr-335416
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Arginina
/
Serina
/
Triptofano
/
Acrocefalossindactilia
/
Prolina
/
Análise Mutacional de DNA
/
Evolução Fatal
/
Diagnóstico
/
Receptor Tipo 2 de Fator de Crescimento de Fibroblastos
/
Etnologia
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
/
Estudo de rastreamento
Limite:
Humanos
/
Lactente
/
Masculino
/
Recém-Nascido
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Singapore medical journal
Ano de publicação:
2013
Tipo de documento:
Artigo
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