ArticleHuman molecular genetics2020
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Article in Human molecular genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 25 citations in OpenAlex.
- A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia.European journal of human genetics : EJHG · 2026Article
- Prenatal and postnatal manifestations of WBP11-related disorder in Chinese patients: expanding the phenotypic and mutational spectrum.Human genomics · 2026Article
- Timing of NAD Deficiency During Organogenesis Dictates Defect Type and Penetrance.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Loss of wbp11 causes multi-system developmental defects: a zebrafish model of VACTERL association.Frontiers in cell and developmental biology · 2026Article
- Molecular mechanism, diagnosis, and treatment of VACTERL association.Frontiers in pediatrics · 2025Review
- The splicing factor WBP11 mediates MCM7 intron retention to promote the malignant progression of ovarian cancer.Oncogene · 2024Article
- G0 arrest gene patterns to predict the prognosis and drug sensitivity of patients with lung adenocarcinoma.PloS one · 2024Article
- Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.American journal of human genetics · 2023Article
- COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.Human molecular genetics · 2023Article
- Genetic Disruption of Cilia-Associated Signaling Pathways in Patients with VACTERL Association.Children (Basel, Switzerland) · 2023Article
- Identification and verification of diagnostic biomarkers in recurrent pregnancy loss via machine learning algorithm and WGCNA.Frontiers in immunology · 2023Article
- The emerging significance of splicing in vertebrate development.Development (Cambridge, England) · 2022Review
- Quantitative 3D analysis and visualization of cardiac fibrosis by microcomputed tomography.STAR protocols · 2022Article
- High-impact rare genetic variants in severe schizophrenia.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology.Genes · 2021Review
- Developmental basis of trachea-esophageal birth defects.Developmental biology · 2021Review
- Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.Differentiation; research in biological diversityArticle
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34 authors at 16 institutions in 7 countries.
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Abstract
The genetic causes of multiple congenital anomalies are incompletely understood. Here, we report novel heterozygous predicted loss-of-function (LoF) and predicted damaging missense variants in the WW domain binding protein 11 (WBP11) gene in seven unrelated families with a variety of overlapping congenital malformations, including cardiac, vertebral, tracheo-esophageal, renal and limb defects. WBP11 encodes a component of the spliceosome with the ability to activate pre-messenger RNA splicing. We generated a Wbp11 null allele in mouse using CRISPR-Cas9 targeting. Wbp11 homozygous null embryos die prior to E8.5, indicating that Wbp11 is essential for development. Fewer Wbp11 heterozygous null mice are found than expected due to embryonic and postnatal death. Importantly, Wbp11 heterozygous null mice are small and exhibit defects in axial skeleton, kidneys and esophagus, similar to the affected individuals, supporting the role of WBP11 haploinsufficiency in the development of congenital malformations in humans. LoF WBP11 variants should be considered as a possible cause of VACTERL association as well as isolated Klippel-Feil syndrome, renal agenesis or esophageal atresia.
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