ArticleAmerican journal of human genetics2015
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 65 citations in OpenAlex.
- Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.The Journal of clinical investigation · 2016Trial
- Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis SyndromeAustralasian journal of ultrasound in medicine · 2025Article
- Gene-Smoking Interaction in Insulin Sensitivity and β-Cell Function Among Normal Glucose Tolerance Individuals.Journal of diabetes · 2025Article
- Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia.Tremor and other hyperkinetic movements (New York, N.Y.) · 2025Article
- Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).Molecular genetics & genomic medicine · 2024Article
- Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.Nature communications · 2024Article
- Musculoskeletal defects associated with myosin heavy chain-embryonic loss of function are mediated by the YAP signaling pathway.EMBO molecular medicine · 2023Article
- Variants inHGG advances · 2023Article
- Lethal multiple pterygium syndrome in a newborn, a case report.Clinical case reports · 2023Article
- Variants inmedRxiv : the preprint server for health sciences · 2023Article
- Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.NPJ genomic medicine · 2022Article
- Temporal proteomic analyses of human lung cells distinguish high pathogenicity influenza viruses and coronaviruses from low pathogenicity viruses.Frontiers in microbiology · 2022Article
- Case Report: Novel compound heterozygous variants inFrontiers in genetics · 2022Article
- Article
- A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita.Genes · 2021Article
- Review
- LncRNA-FKBP1C regulates muscle fiber type switching by affecting the stability of MYH1B.Cell death discovery · 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
- Genetics and signaling mechanisms of orofacial clefts.Birth defects research · 2020Review
Corrections and comments
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Authors and funding
20 authors at 7 institutions in 2 countries.
Funding
Abstract
Multiple pterygium syndrome (MPS) is a phenotypically and genetically heterogeneous group of rare Mendelian conditions characterized by multiple pterygia, scoliosis, and congenital contractures of the limbs. MPS typically segregates as an autosomal-recessive disorder, but rare instances of autosomal-dominant transmission have been reported. Whereas several mutations causing recessive MPS have been identified, the genetic basis of dominant MPS remains unknown. We identified four families affected by dominantly transmitted MPS characterized by pterygia, camptodactyly of the hands, vertebral fusions, and scoliosis. Exome sequencing identified predicted protein-altering mutations in embryonic myosin heavy chain (MYH3) in three families. MYH3 mutations underlie distal arthrogryposis types 1, 2A, and 2B, but all mutations reported to date occur in the head and neck domains. In contrast, two of the mutations found to cause MPS in this study occurred in the tail domain. The phenotypic overlap among persons with MPS, coupled with physical findings distinct from other conditions caused by mutations in MYH3, suggests that the developmental mechanism underlying MPS differs from that of other conditions and/or that certain functions of embryonic myosin might be perturbed by disruption of specific residues and/or domains. Moreover, the vertebral fusions in persons with MPS, coupled with evidence of MYH3 expression in bone, suggest that embryonic myosin plays a role in skeletal 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.