Faculty, Staff and Student Publications
Publication Date
5-3-2024
Journal
Science
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
Keywords
Animals, Female, Humans, Male, Mice, Chromosome Deletion, Chromosomes, Human, Pair 22, DiGeorge Syndrome, Exome Sequencing, Folic Acid, Folic Acid Deficiency, Meningomyelocele, Penetrance, Spinal Dysraphism, Risk, Adaptor Proteins, Signal Transducing
DOI
10.1126/science.adl1624
PMID
38696583
PMCID
PMC11849314
PubMedCentral® Posted Date
2-24-2025
PubMedCentral® Full Text Version
Author MSS
Published Open-Access
yes