Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population.
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Date
2013-10
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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 AND 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.
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.
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Keywords
Craniosynostosis, fibroblast growth factor receptor, non‑syndromic, suture, syndromic
Citation
Pandey Rajeev Kumar, Bajpai Minu, Ali Abid, Gayan Sukanya, Singh Amit. Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population. Indian Journal of Human Genetics. 2013 Oct-Dec ;19 (4): 449-453.