ArticleAmerican journal of medical genetics. Part A2022
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
Article in American journal of medical genetics. Part A, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 7 citations in OpenAlex.
- Whole exome sequencing uncovers novel genetic insights into Tethered cord syndrome.Molecular genetics and genomics : MGG · 2026Article
- Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.Kidney international reports · 2025Article
- Expanding and refining the Mammalian Phenotype Ontology to enhance disease model discovery.Disease models & mechanisms · 2025Article
- A defined tubby domain β-barrel surface region of TULP3 mediates ciliary trafficking of diverse cargoes.Molecular biology of the cell · 2025Article
- Genes to therapy: a comprehensive literature review of whole-exome sequencing in neurology and neurosurgery.European journal of medical research · 2024Review
- Molecular and structural perspectives on protein trafficking to the primary cilium membrane.Biochemical Society transactions · 2024Review
- Genome-wide analysis of spina bifida risk variants in a case-control study from Bangladesh.Birth defects research · 2024Article
- Interactions between TULP3 tubby domain and ARL13B amphipathic helix promote lipidated protein transport to cilia.Molecular biology of the cell · 2023Article
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Authors and funding
28 authors at 6 institutions in 6 countries.
Funding
Abstract
Spina bifida (SB) is the second most common nonlethal congenital malformation. The existence of monogenic SB mouse models and human monogenic syndromes with SB features indicate that human SB may be caused by monogenic genes. We hypothesized that whole exome sequencing (WES) allows identification of potential candidate genes by (i) generating a list of 136 candidate genes for SB, and (ii) by unbiased exome-wide analysis. We generated a list of 136 potential candidate genes from three categories and evaluated WES data of 50 unrelated SB cases for likely deleterious variants in 136 potential candidate genes, and for potential SB candidate genes exome-wide. We identified 6 likely deleterious variants in 6 of the 136 potential SB candidate genes in 6 of the 50 SB cases, whereof 4 genes were derived from mouse models, 1 gene was derived from human nonsyndromic SB, and 1 gene was derived from candidate genes known to cause human syndromic SB. In addition, by unbiased exome-wide analysis, we identified 12 genes as potential candidates for SB. Identification of these 18 potential candidate genes in larger SB cohorts will help decide which ones can be considered as novel monogenic causes of human SB.
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Registered trials
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