AI Article Synopsis

  • Meningomyelocele is a serious neural tube defect and the most common structural birth defect affecting the central nervous system.
  • The Spina Bifida Sequencing Consortium found that deletions on chromosome 22q11.2 increase the risk of meningomyelocele by 23 times compared to the general population.
  • Research indicates that the deletion of specific genes in this region, combined with a lack of maternal folate, can significantly increase the risk of neural tube defects in offspring.

Article Abstract

Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida Sequencing Consortium to identify causes. Exome and genome sequencing of 715 parent-offspring trios identified six patients with chromosomal 22q11.2 deletions, suggesting a 23-fold increased risk compared with the general population. Furthermore, analysis of a separate 22q11.2 deletion cohort suggested a 12- to 15-fold increased NTD risk of meningomyelocele. The loss of , one of several neural tube-expressed genes within the minimal deletion interval, was sufficient to replicate NTDs in mice, where both penetrance and expressivity were exacerbated by maternal folate deficiency. Thus, the common 22q11.2 deletion confers substantial meningomyelocele risk, which is partially alleviated by folate supplementation.

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Source
http://dx.doi.org/10.1126/science.adl1624DOI Listing

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