ArticleFrontiers in genetics2024
Prenatal detection of novel compound heterozygous variants of the
Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Novel compound heterozygous variants in theFrontiers in cardiovascular medicine · 2026Article
- Case Report: Prenatal imaging and genetic integrated diagnosis ofFrontiers in neuroscience · 2026Article
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5 authors.
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Abstract
Background: Congenital heart disease (CHD) is the most common birth defect and heart valve defects are the most common cardiac defect, accounting for over 25% of all congenital heart diseases. To date, more than 400 genes have been linked to CHD, the genetic analysis of CHD cases is crucial for both clinical management and etiological determination. Patients with autosomal-recessive variants of Methods: Databases were utilized to predict the impact of the c.1062-59A>G variant on splicing. Whole-exome sequencing (WES), reverse transcription polymerase chain reaction (RT-PCR), Sanger sequencing, and TA clone sequencing were conducted on both the parents and the fetus. Results: A compound heterozygous variation in the Conclusion: Our study identified novel variants to expand the mutation spectrum of CHD and provided reliable evidence for the recurrent risk and reproductive care options.
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