ArticleBirth defects research. Part A, Clinical and molecular teratology2016
Genetic association of the glycine cleavage system genes and myelomeningocele.
Article in Birth defects research. Part A, Clinical and molecular teratology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 23 citations in OpenAlex.
- Spina bifida as a multifactorial birth defect: Risk factors and genetic underpinnings.Pediatric discovery · 2025Review
- Genome-wide analysis of spina bifida risk variants in a case-control study from Bangladesh.Birth defects research · 2024Article
- Glycine Cleavage System H Protein Is Essential for Embryonic Viability, Implying Additional Function Beyond the Glycine Cleavage System.Frontiers in genetics · 2021Article
- Approaches to studying the genomic architecture of complex birth defects.Prenatal diagnosis · 2020Review
- One-carbon metabolism and folate transporter genes: Do they factor prominently in the genetic etiology of neural tube defects?Biochimie · 2020Review
- Impaired folate 1-carbon metabolism causes formate-preventable hydrocephalus in glycine decarboxylase-deficient mice.The Journal of clinical investigation · 2020Article
- Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.Human genetics · 2019Article
- The impact of common genetic variants in the mitochondrial glycine cleavage system on relevant metabolites.Molecular genetics and metabolism reports · 2018Article
- A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.Clinical genetics · 2018Article
- Partitioning of One-Carbon Units in Folate and Methionine Metabolism Is Essential for Neural Tube Closure.Cell reports · 2017Article
- Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned.American journal of medical genetics. Part A · 2017Review
- V-Y Plasty or Primary Repair Closure of Myelomeningocele: Our Experience.Journal of pediatric neurosciencesArticle
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
backgroundNeural tube defects (NTDs) are one of the most common congenital birth defects, with myelomeningocele (MM) being the most severe form compatible with life. Recent studies show a link between mitochondrial folate one carbon metabolism and NTDs by means of the glycine cleavage system (GCS). We hypothesize that single nucleotide polymorphisms and novel variants in the coding regions of the GCS genes increase the risk for MM.
methodsDNA was obtained from 96 subjects with MM born before the United States mandated folic acid fortification of grains in 1998. Primers were designed for polymerase chain reaction amplification and sequencing of all exons in the AMT gene, one of four genes in the GCS, followed by identification of single nucleotide polymorphisms and novel variants. An additional 252 MM subjects underwent whole exome sequencing to examine all four GCS genes (aminomethyltransferase, glycine dehydrogenase, glycine cleavage system protein-H, and dihydrolipoamide dehydrogenase).
resultsWe identified six novel, heterozygous variants in the AMT gene with three predicted to be deleterious to AMT function (p.Val7Leu, p.Pro251Arg, and p.Val380Met). Five extremely rare, known heterozygous variants were found in the AMT gene and one in the GLDC gene. No novel variants in the exons of the other two GCS genes (DLD and GCSH) were identified.
conclusionWe identified novel and rare, known variants in two of the four GCS genes that may contribute to the development of MM. Consistent with previous findings, the current study provides additional support that genetic variations in GCS genes contribute to the risk of NTDs. Birth Defects Research (Part A) 106:847-853, 2016. © 2016 Wiley Periodicals, Inc.
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