Author(s):
1. Sara Mumtaz:
National University of Medical Sciences,Rawalpindi, Pakistan
Abstract:
In Pakistan, meningomyelocele is a prevalent and disabling congenital anomaly. Our international collaboration, the Spina Bifida Sequencing Consortium, has focused on identifying the genetic factors contributing to this condition. Through exome and genome sequencing of a large set of parent-offspring trios, we identified a significant genetic link: the common 22q11.2 chromosomal deletions. Our analysis suggests this deletion increases the risk of meningomyelocele by an estimated 23-fold. A separate analysis of a cohort with this specific deletion further confirmed a 12- to 15-fold increased risk of neural tube defects. We pinpointed one of the key genes within the deleted region, Crkl, and found that its absence alone was enough to cause neural tube defects in animal models. Critically, It observed that this genetic risk was exacerbated by maternal folate deficiency, and could be partially mitigated by folate supplementation. This research provides crucial genetic insight for clinicians and genetic counselors in world including Pakistan, establishing the 22q11.2 deletion as a major contributor to meningomyelocele and reinforcing the vital role of folic acid in both prevention and risk management.
Page(s):
47-47
DOI:
DOI not available
Published:
Journal: 4th International Conference of Sciences “Revamped Scientific Outlook of 21st Century, 2025” , November 12,2025, Volume: 1, Issue: 1, Year: 2025
Keywords:
Neural tube defects
,
Meningomyelocele
,
Spina bifida
,
Crkl
References:
References are not available for this document.
Citations
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