Genetic Epidemiology of Neural Tube Defects

Overview

Journal J Pediatr Rehabil Med

Publisher Sage Publications

Specialties Pediatrics
Rehabilitation Medicine

Date 2017 Nov 11

PMID 29125517

Citations 13

Authors

Philip J Lupo

A J Agopian

Heidi Castillo

Jonathan Castillo

Gerald H Clayton

Nienke P Dosa

Betsy Hopson

David B Joseph

Brandon G Rocque

William O Walker

John S Wiener

Laura E Mitchell

Affiliations

Soon will be listed here.

Abstract

It has been estimated that 60-70% of neural tube defects (NTDs) have a genetic component, but few causative genes have been identified. The lack of information on genes associated with non-syndromic NTDs in humans is especially notable as the "genomic revolution" has led to new tools (e.g., genome-wide genotyping arrays, next-generation sequencing) that are helping to elucidate the full spectrum of genetic variation (from common to rare) contributing to complex traits, including structural birth defects. However, the application of modern genomic approaches to the study of NTDs has lagged behind that of some other common structural birth defects. This may be due to the difficulty of assembling large study cohorts for anencephaly or spina bifida. The purpose of this review is to outline the evolution of genetic studies of NTDs, from studies of familial aggregation to candidate gene and genome-wide association studies, through whole-exome and whole-genome sequencing. Strategies for addressing gaps in NTD genetic research are also explored.

Citing Articles

Perinatal Outcomes in Patients With Neural Tube Defects in a Middle-Income Setting.

Velazquez-Torres B, Pacheco-Ruiz S, Acevedo-Gallegos S, Lumbreras-Marquez M, Jimenez-Guerra R, Ramirez-Calvo J Birth Defects Res. 2025; 117(2):e2455.

PMID: 39968693 PMC: 11836916. DOI: 10.1002/bdr2.2455.

Maternal arsenic exposure modifies associations between arsenic, folate and arsenic metabolism gene variants, and spina bifida risk: A case‒control study in Bangladesh.

Wei C, Tindula G, Mukherjee S, Wang X, Ekramullah S, Arman D Environ Res. 2024; 261:119714.

PMID: 39094898 PMC: 11460318. DOI: 10.1016/j.envres.2024.119714.

Maternal periconceptional exposure to drinking water disinfection by-products and neural tube defects in offspring.

Kancherla V, Rhoads A, Conway K, Suhl J, Langlois P, Hoyt A Birth Defects Res. 2024; 116(6):e2370.

PMID: 38888449 PMC: 11295258. DOI: 10.1002/bdr2.2370.

Genome-wide analysis of spina bifida risk variants in a case-control study from Bangladesh.

Tindula G, Issac B, Mukherjee S, Ekramullah S, Arman D, Islam J Birth Defects Res. 2024; 116(3):e2331.

PMID: 38526198 PMC: 10963057. DOI: 10.1002/bdr2.2331.

Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects.

Oxman E, Li H, Wang H, Zohn I Hum Genet. 2024; 143(3):263-277.

PMID: 38451291 PMC: 11043113. DOI: 10.1007/s00439-024-02647-4.

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