De novo mutations and environmental modifiers: lessons from neural tube defects - PubMed
5 hours ago
- #de novo mutations
- #neural tube defects
- #folic acid
- Spina bifida is a heterogeneous group of neural tube defects (NTDs), including meningomyelocele.
- Folic acid (FA) supplementation has reduced NTD incidence by 30-50%, but genetic factors are not fully understood.
- Trio sequencing identified de novo mutations (DNMs) in 20-25% of patients with NTDs.
- Two large genomic studies found DNMs in 187 candidate genes and a recurrent 22q11.2 deletion as risk factors.
- Partial penetrance and variable expressivity suggest risk depends on FA and other modifiers.
- The Spina Bifida Sequencing Consortium promotes data sharing for multidisciplinary research and clinical testing.