Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population.
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.


METHODS
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.


CONCLUSIONS
Our study proposed that FGFR1, FGFR2 mutation, which confers predisposition to craniosynostosis does not exist in Indian population when compared to the western world.
Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, India.
Rajeev Kumar
RK
Pandey
Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, India.
Minu
M
Bajpai
Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, India.
Abid
A
Ali
Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, India.
Sukanya
S
Gayan
Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, India.
Amit
A
Singh
Craniosynostosis; fibroblast growth factor receptor; non-syndromic; suture; syndromic