Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population.
Indian J Hum Genet
;
2013 Oct-Dec ;19 (4): 449-453
Artigo
em Inglês
| IMSEAR
| ID: sea-156612
ABSTRACT
OBJECTIVE:
The Objective of this study was to identify the association of mutation of fibroblast growth factor receptor 1 (FGFR1), FGFR2 genes with syndromic as well as non‑syndromic craniosynostosis in Indian population. MATERIALS ANDMETHODS:
Retrospective analysis of our records from January 2008 to December 2012 was done. A total of 41 cases satisfying the inclusion criteria and 51 controls were taken for the study. A total volume of 3 ml blood from the patient as well as parents was taken. Deoxyribonucleic acid extracted using phenol chloroform extraction method followed by polymerase chain reaction‑restriction fragment length polymorphism method.RESULTS:
There were 33 (80.4%) non‑syndromic cases of craniosynostosis while 8 (19.5%) were syndromic. Out of these 8 syndromic cases, 4 were Apert syndrome, 3 were Crouzon syndrome and 1 Pfeiffer syndrome. Phenotypically the most common non‑syndromic craniosynostosis was scaphocephaly (19, 57.7%) followed by plagiocephaly in (14, 42.3%). FGFR1 mutation (Pro252Arg) was seen in 1 (2.4%) case of non‑syndromic craniosynostosis while no association was noted either with FGFR1 or with FGFR2 mutation in syndromic cases. None of the control group showed any mutation.CONCLUSION:
Our study proposed that FGFR1, FGFR2 mutation, which confers predisposition to craniosynostosis does not exist in Indian population when compared to the western world.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Síndrome
/
Feminino
/
Humanos
/
Masculino
/
Criança
/
Pré-Escolar
/
Receptores de Fatores de Crescimento de Fibroblastos
/
Adulto
/
Craniossinostoses
/
Índia
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2013
Tipo de documento:
Artigo
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