Methylenetetrahydrofolate reductase C677T variant in Indian children with craniosynostosis: Its role in the pathogenesis, risk of craniosynostosis.

ABSTRACT:

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.

Objectives

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

Materials and 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 s

SUBMITTER: Pandey RK 

PROVIDER: S-EPMC4228567 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature