Background: Neural tube defects (NTDs) are complex embryological malformations, affecting 1 in 1,000 live births. Antisense studies have implicated murine Mab21 genes as having an important role in neural tube development. We investigated whether MAB21L1/L2 genes could be involved in the aetiology of NTDs.
Methods: Denaturing HPLC (DHPLC) analysis of MAB21 genes was performed in 116 NTD cases. A case-control approach was used to test if the two single nucleotide polymorphisms (SNPs) of the MAB21L1 gene might be associated with increased NTD risk.
Results: No pathological variants of MAB21L1/L2 genes were identified by DHPLC analysis. Case-control studies demonstrated that the two SNPs (CAG triplets in 5'UTR; A-->C in 3'UTR) in the MAB21L1 gene are unlikely to be directly responsible for myelomeningocele.
Conclusions: We suggest that MAB21 genes are unlikely to have substantial impact on NTDs. These preliminary findings will need to be investigated in larger samples before firm conclusions can be made.