Methylenetetrahydrofolate reductase C677T variant in Indian children with craniosynostosis: Its role in the pathogenesis, risk of craniosynostosis.
BACKGROUND
677C to T allele in the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene has been implicated in the etiology of various syndromes and nonsyndromic diseases but till date no direct studies have been reported with craniosynostosis.


OBJECTIVE
The aim was to study the family-based association of MTHFR polymorphism in different categories of craniosynostosis patients.


METHODS
This was a cross-sectional study in which 30 patients classified as Apert syndrome, Pfeiffr syndrome and nonsyndromic craniosynostosis patients with their family were recruited. A sample of 3 ml intravenous blood was taken from patients and from their family members (father and mother) in ethylenediaminetetraacetic acid-anticoagulated vacutainer for the purpose of the study. Genomic DNA was extracted from peripheral blood lymphocytes by phenol chloroform extraction method. Primers for MTHFR gene were designed. The polymerase chain reaction was carried out. After successful amplification, a small aliquot (5 μl) of the MTHFR reaction mixture was treated with 1 units of Hinf I restriction enzyme (NEB). Results were obtained and compiled.


RESULTS
A total of 30 patients/participants with craniosynostosis of Indian descent and their parents formed the study group. The genotyping did not confirm an association between the MTHFR 677C to T polymorphism and between different categories of craniosynostosis. When comparing the offspring of mothers statistically significant differences were found.


CONCLUSIONS
C667T polymorphism of the MTHFR gene is unlikely to play a role in the pathogenesis of craniosynostosis though maternal MTHFR C677T polymorphism may be a genetic risk factor.
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.
Abid
A
Ali
Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, India.
Amit
A
Singh
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.
Minu
M
Bajpai
Craniosynostosis; gene; methylenetetrahydrofolate reductase polymorphism