ArticleHuman mutation2019
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.
Article in Human mutation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 31 citations in OpenAlex.
- Trial
- Sensory nerve-derived signaling coordinates oropharyngeal structural organization that supports suckling and vocalization in neonatal mice.Nature communications · 2026Article
- Gene-by-Environment Interactions Involving Maternal Exposures with Orofacial Cleft Risk in Filipinos.Genes · 2025Article
- The Reign of Follistatin in Tumors and Their Microenvironment: Implications for Drug Resistance.Biology · 2024Review
- Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.Orphanet journal of rare diseases · 2024Review
- GDF11 and aging biology - controversies resolved and pending.The journal of cardiovascular aging · 2023Article
- Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.American journal of human genetics · 2023Article
- Functional substitutions of amino acids that differ between GDF11 and GDF8 impact skeletal development and skeletal muscle.Life science alliance · 2023Article
- Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.Molecular genetics & genomic medicine · 2023Article
- MeCP2 regulateseLife · 2023Article
- Variant analyses of candidate genes in orofacial clefts in multi-ethnic populations.Oral diseases · 2022Article
- GDF-11 promotes human trophoblast cell invasion by increasing ID2-mediated MMP2 expression.Cell communication and signaling : CCS · 2022Article
- Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing Study.Frontiers in genetics · 2022Article
- Identification of Novel Genomic Variations in Susceptibility to Nonsyndromic Cleft Lip and Palate Patients.Pediatric reports · 2021Article
- Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Characterization of tolloid-mediated cleavage of the GDF8 procomplex.The Biochemical journal · 2021Article
- Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes.Molecular genetics & genomic medicine · 2021Article
- Overexpression of circRNA circUCK2 Attenuates Cell Apoptosis in Cerebral Ischemia-Reperfusion Injury via miR-125b-5p/GDF11 Signaling.Molecular therapy. Nucleic acids · 2020Article
- Review
- Similar sequences but dissimilar biological functions of GDF11 and myostatin.Experimental & molecular medicine · 2020Review
Corrections and comments
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Authors and funding
30 authors at 13 institutions in 3 countries.
Funding
Abstract
Cleft lip with or without cleft palate (CL/P) is generally viewed as a complex trait with multiple genetic and environmental contributions. In 70% of cases, CL/P presents as an isolated feature and/or deemed nonsyndromic. In the remaining 30%, CL/P is associated with multisystem phenotypes or clinically recognizable syndromes, many with a monogenic basis. Here we report the identification, via exome sequencing, of likely pathogenic variants in two genes that encode interacting proteins previously only linked to orofacial clefting in mouse models. A variant in GDF11 (encoding growth differentiation factor 11), predicting a p.(Arg298Gln) substitution at the Furin protease cleavage site, was identified in one family that segregated with CL/P and both rib and vertebral hypersegmentation, mirroring that seen in Gdf11 knockout mice. In the second family in which CL/P was the only phenotype, a mutation in FST (encoding the GDF11 antagonist, Follistatin) was identified that is predicted to result in a p.(Cys56Tyr) substitution in the region that binds GDF11. Functional assays demonstrated a significant impact of the specific mutated amino acids on FST and GDF11 function and, together with embryonic expression data, provide strong evidence for the importance of GDF11 and Follistatin in the regulation of human orofacial development.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.