ArticleScientific reports2019
DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- Genetic drivers of congenital cardiac fibrosis.Communications biology · 2026Review
- Aggregation of gene regulatory information and knowledge on FAIR principles enables discovery of pathogenic gene regulatory variants.Bioinformatics (Oxford, England) · 2026Article
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- Prenatal diagnosis and clinical pregnancy outcome of fetuses with conotruncal defects in a Chinese cohort.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2025Article
- Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy.Frontiers in genetics · 2025Article
- Investigation of the genetic and clinical features of laterality disorders in prenatal diagnosis: discovery of a novel compound heterozygous mutation in the DNAH11 gene.Archives of gynecology and obstetrics · 2024Article
- From phenotype to mechanism: Prenatal spectrum of NKAP mutation-related disorder and its pathogenesis inducing congenital heart disease.Journal of cellular and molecular medicine · 2024Article
- Human Genetics of Defects of Situs.Advances in experimental medicine and biology · 2024Review
- Functions of cilia in cardiac development and disease.Annals of human genetics · 2024Review
- Molecular Pathways and Animal Models of d-Transposition of the Great Arteries.Advances in experimental medicine and biology · 2024Review
- Uncovering the Genetic Basis of Congenital Heart Disease: Recent Advancements and Implications for Clinical Management.CJC pediatric and congenital heart disease · 2023Review
- Whole-exome sequencing study of hypospadias.iScience · 2023Article
- Genetic Disruption of Cilia-Associated Signaling Pathways in Patients with VACTERL Association.Children (Basel, Switzerland) · 2023Article
- Clinical implications of respiratory ciliary dysfunction in heterotaxy patients with congenital heart disease: elevated risk of postoperative airway complications.Frontiers in cardiovascular medicine · 2023Article
- Article
- The genetic landscape of cardiovascular left-right patterning defects.Current opinion in genetics & development · 2022Review
- Molecular genetic mechanisms of congenital heart disease.Current opinion in genetics & development · 2022Review
- Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.Communications biology · 2022Article
- A change of heart: new roles for cilia in cardiac development and disease.Nature reviews. Cardiology · 2022Review
- Article
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8 authors.
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Abstract
Congenital heart diseases (CHDs) are the most common types of birth defects, affecting approximately 1% of live births and remaining the leading cause of mortality. CHD patients often show a higher incidence of heterotaxy syndrome. However, the exact aetiology of CHD and heterotaxy syndrome remains unclear. In this study, targeted sequencing and Sanger sequencing were performed to analyze the exonic regions of 37 primary ciliary dysfunction (PCD)- related candidate genes in 42 CHD patients with heterotaxy syndrome. Variants affecting protein-coding regions were filtered according to databases of known variants and predicted in silico using functional prediction program. Thirty-four potential disease-causing heterozygous variants in 11 genes were identified in the 19 CHD patients with heterotaxy syndrome (45.2%, 19/42). The DNAH11 gene showed the highest mutation rate (16.7%; 14 of 84 alleles) among the CHD patients with heterotaxy. Fisher's exact test revealed a significant association of DNAH11 variants with CHD and heterotaxy (P = 0.0001). In families, six different compound heterozygous variants of DNAH11 were validated in family 1-5031 (p.W802X/p.M282I), family 2-5045 (p.T3460K/p.G4425S), family 3-5065 (p.G447R/p.L1157R), family 4-5130 (p.I2262T/p.D3800H), family 5-5707 (p.S1823fs/p.F2759L/p.R4395X) and family 6-5062 (p.D3610V/p.I243V). These findings suggest that the DNAH11 variants are significantly associated with CHD and heterotaxy syndrome and that compound heterozygous DNAH11 variants may be the common genetic cause of the development of familial CHD and heterotaxy syndrome.
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