Aim: To detect the novel mutation in VANGL1 gene indicating genetic association of Myelomeningocele.

Methodology: The study design was cross sectional. It comprises of sixty individuals, of them fifty were diagnosed cases of myelomeningocele and ten were healthy individuals taken as controls. The cases were collected from Jinnah Postgraduate Medical Center. The study was carried out in Dow Diagnostic and Research Laboratory (D.D.R.L.). Most of the patients were less than one year of age. The cases were evaluated for various other parameters like site and size of cyst and associated features like presence of hydrocephalus in the individuals. Since folic acid deficiency is the key component in the causation of the disease so mothers were also asked about the consumption of folic acid. Blood was drawn from patients after a written permission from the parents of the concerned patient. It was followed by the conduction of PCR to seek for any mutation in VANGL1 gene.

Results: We found a rare mutation in VANGL1 gene revealing substitution of valine to serine at position 239 i.e. V239S. Hydrocephalus being the associated anomaly was present in 32% of the patients. Most of the affected individuals were males. 98% mothers of the sufferers did not take folic acid during pregnancy. In most of the patients, lump was present on the lumbar region.

Conclusion: Myelomeningocele is a congenital birth defect with lifelong complications. Its prevalence can be decreased by taking certain measures. Periconceptional intake of folic acid has been established to lessen the risk of the disease. We identified a rare mutation in VANGL1 gene that may result in the causation of myelomeningocele.

Keywords: Neural tube defects, mutation, myelomeningocele