Aim: To determine association of location of cyst with the family history and mutated gene among patients of myelomeningocele.

Methodology: This cross sectional study consists of fifty diagnosed cases of myelomeningocele and ten healthy individuals taken as controls. The cases were collected from Jinnah Postgraduate Medical Center (JPMC) for a period of six months. The research was conducted in Dow Diagnostic and Research Laboratory (DDRL) (DUHS). Majority of the patients included in the study were neonates. Patients were examined for the presence and site of the cyst. Family history of the patients was also recorded. After taken informed consent from the patient’s attendants, blood was drawn by a trained phlebotomist. DNA was extracted from whole blood followed by PCR amplification of VANGL1 gene.

Results: We found that among fifty individuals five patients showed mutation in VANGL1 gene. Mutation was absent entirely from the controls. The cyst was mostly (92%) present in the lumbar region. Only 2% patients showed positive family history. The association between site of the cyst and family history was statistically significant.

Conclusion: It is concluded that all mutation of VANGL1 gene was present at lumbar region.There was a strong relation between location of cyst and family history.

Keywords: Myelomeningocele, cyst, VANGL1 gene, PCR, mutation.