ArticleThe Journal of craniofacial surgery2017
A Targeted, Next-Generation Genetic Sequencing Study on Tetralogy of Fallot, Combined With Cleft Lip and Palate.
Article in The Journal of craniofacial surgery, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 12 citations in OpenAlex.
- A Comprehensive Review of the Genetic Etiology and Management of Orofacial Clefts.Pediatric discovery · 2026Review
- CRISPR-based knockout and base editing confirm the role of MYRF in heart development and congenital heart disease.Disease models & mechanisms · 2023Article
- Massive Loss of Transcription Factors Promotes the Initial Diversification of Placental Mammals.International journal of molecular sciences · 2022Article
- High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects.American journal of medical genetics. Part A · 2022Article
- The M310T mutation in the GATA4 gene is a novel pathogenic target of the familial atrial septal defect.BMC cardiovascular disorders · 2021Article
- A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.Frontiers in neurology · 2019Article
- Review
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital heart disease (CHD), plus cleft lip and palate (CLP) are currently the most common types of structural malformation in infants. Many genes have been investigated for their involvement in CHD with CLP. Targeted next-generation sequencing can analyze large amounts of genetic information rapidly, and thus address this question.
methodsThe authors designed a targeted, next-generation sequencing gene panel for 455 genes previously implicated in CHD or CLP. A single-subject patient served as a genetic source. Variants that affect protein-coding regions were classified into silico and filtered through databases, such as the Single-Nucleotide Polymorphism Database, Yan Huang, the Exome Sequencing Project, and the 1000 Genomes Project. The authors then predicted the function of gene mutations by PolyPhen-2, SIFT, and Mutation Taster. To confirm the related disease genes, the authors surveyed relevant literature on PubMed. Finally, the variant was verified by Sanger sequencing.
resultsA total of 1520 mutations were successfully found in a patient using combined tetralogy of Fallot and CLP by the targeted next-generation sequencing. However, there were 6 gene mutations (ZNF528, PVRL2, methylenetetrahydrofolate reductase [MTHFR], EVC2, DAND5, CCDC39) that were not found on Single-Nucleotide Polymorphism Database, Yan Huang, Exome Sequencing Project, and 1000 Genomes Project. Four genes (ZNF528, PVRL2, EVC2, CCDC39) were all predicted to be "tolerated," "benign," or "polymorphic" by SIFT, PolyPhen-2, and Mutation Taster. The DAND5 gene was predicted to be "possibly damaging" and "disease causing" respectively by PolyPhen-2 and Mutation Taster, but the SIFT program predicted this mutation to be "tolerated." Likewise, the MTHFR gene mutation was predicted to be "damaging," "possibly damaging," and "disease causing" respectively by SIFT, PolyPhen-2, and Mutation Taster. There is no relevant report about MTHFR gene mutation (c.G586A, p.G196S) on PubMed.
conclusionUsing targeted, next-generation sequencing technology, the authors identified for the first time a mutation (c.G586A, p.G196S) in the MTHFR gene as a possible cause of TOF and CLP in a patient.
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