ArticleEuropean journal of human genetics : EJHG2016
Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 30 citations in OpenAlex.
- Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios.American journal of human genetics · 2025Article
- Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis SyndromeAustralasian journal of ultrasound in medicine · 2025Article
- Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia.Tremor and other hyperkinetic movements (New York, N.Y.) · 2025Article
- Proteomic analysis illustrates the potential involvement of motor proteins in cleft palate development.Scientific reports · 2024Article
- NovelJournal of pediatric genetics · 2024Article
- Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).Molecular genetics & genomic medicine · 2024Article
- A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum.Genes · 2024Article
- Musculoskeletal defects associated with myosin heavy chain-embryonic loss of function are mediated by the YAP signaling pathway.EMBO molecular medicine · 2023Article
- Mutation of the MYH3 gene causes recessive cleft palate in Limousine cattle.Genetics, selection, evolution : GSE · 2022Article
- Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.NPJ genomic medicine · 2022Article
- Intragenic Deletions inGenes · 2021Article
- Motor Proteins and Spermatogenesis.Advances in experimental medicine and biology · 2021Review
- MYH3-associated distal arthrogryposis zebrafish model is normalized with para-aminoblebbistatin.EMBO molecular medicine · 2020Article
- Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).Molecular genetics & genomic medicine · 2020Article
- Chronic Ethanol Feeding in Mice Decreases Expression of Genes for Major Structural Bone Proteins in a Nox4-Independent Manner.The Journal of pharmacology and experimental therapeutics · 2020Article
- Novel potential causative genes in carotid paragangliomas.BMC medical genetics · 2019Article
- A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination.Journal of human genetics · 2018Article
- Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.American journal of human genetics · 2018Article
- Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa.Case reports in genetics · 2017Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spondylocarpotarsal synostosis syndrome (SCT) is a rare Mendelian disorder (OMIM #272460) characterized by prenatal vertebral fusion, scoliosis, short stature and carpal and tarsal synostosis. SCT is typically known as an autosomal recessive disease caused by variants in the FLNB gene. The genetic basis of the rarer cases of vertical transmissions remains unknown. In two independent families with symptoms related to autosomal dominant SCT, we identified - by exome sequencing - two protein-altering variants in the embryonic myosin heavy chain 3 (MYH3) gene. As MYH3 variants are also associated with distal arthrogryposis (DA1, DA2A, DA2B) and autosomal dominant multiple pterygium syndromes (MPS), the present study expands the phenotypic spectrum of MYH3 variants to autosomal dominant SCT. Vertebral, carpal and tarsal fusions observed in both families further confirm that MYH3 plays a key role in skeletal development.
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