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Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.
Morali B, Miranda V, Raelson J, Grimard G, Glavas P, Audibert F, Dumont NA, Barone J, Bamshad M, Lemyre E, Campeau PM. Morali B, et al. Clin Genet. 2024 Oct;106(4):483-487. doi: 10.1111/cge.14570. Epub 2024 Jun 10. Clin Genet. 2024. PMID: 38856159
This is the first report of biallelic variants in MYH3 being implicated in a distal arthrogryposis phenotype without the additional features of CPSFS. Thus, akin to CPSFS, both dominant and recessively inherited distal arthrogryposis can be caused by variants in MYH3 …
This is the first report of biallelic variants in MYH3 being implicated in a distal arthrogryposis phenotype without the additional f …
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
Scala M, Accogli A, De Grandis E, Allegri A, Bagowski CP, Shoukier M, Maghnie M, Capra V. Scala M, et al. Am J Med Genet A. 2018 Mar;176(3):663-667. doi: 10.1002/ajmg.a.38593. Epub 2018 Jan 5. Am J Med Genet A. 2018. PMID: 29314551 Review.
Causative mutations in at least four different genes have been reported (MYH3, TNNI2, TPM2, and TNNT3). MYH3 plays a pivotal role in fetal muscle development and mutations in this gene are associated with Freeman-Sheldon syndrome, distal arthrogryposis 8 (DA8), and …
Causative mutations in at least four different genes have been reported (MYH3, TNNI2, TPM2, and TNNT3). MYH3 plays a pivotal r …
MYH3-associated distal arthrogryposis zebrafish model is normalized with para-aminoblebbistatin.
Whittle J, Antunes L, Harris M, Upshaw Z, Sepich DS, Johnson AN, Mokalled M, Solnica-Krezel L, Dobbs MB, Gurnett CA. Whittle J, et al. EMBO Mol Med. 2020 Nov 6;12(11):e12356. doi: 10.15252/emmm.202012356. Epub 2020 Oct 5. EMBO Mol Med. 2020. PMID: 33016623 Free PMC article.
Here, we describe a zebrafish model in which a common MYH3 missense mutation (R672H) was introduced into the orthologous zebrafish gene smyhc1 (slow myosin heavy chain 1) (R673H). ...Treatment of smyhc1(R673H/R673H) embryos with the myosin ATPase inhibitor, para-aminoblebb …
Here, we describe a zebrafish model in which a common MYH3 missense mutation (R672H) was introduced into the orthologous zebrafish ge …
Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis.
Yang Y, Zhang W, Wang H. Yang Y, et al. Prenat Diagn. 2023 Oct;43(11):1467-1471. doi: 10.1002/pd.6440. Epub 2023 Sep 13. Prenat Diagn. 2023. PMID: 37705160
The MYH3 gene encodes the embryonic myosin heavy chain, which is crucial for the skeletal and muscular development. ...This study expands the spectrum of MYH3 variants and supports the domain-specific genotype-phenotype correlation of MYH3....
The MYH3 gene encodes the embryonic myosin heavy chain, which is crucial for the skeletal and muscular development. ...This study exp …
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.
Zhao S, Zhang Y, Hallgrimsdottir S, Zuo Y, Li X, Batkovskyte D, Liu S, Lindelöf H, Wang S, Hammarsjö A, Yang Y, Ye Y, Wang L, Yan Z, Lin J, Yu C, Chen Z, Niu Y, Wang H, Zhao Z, Liu P, Qiu G, Posey JE, Wu Z, Lupski JR, Micule I, Anderlid BM, Voss U, Sulander D, Kuchinskaya E, Nordgren A, Nilsson O; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Zhang TJ, Grigelioniene G, Wu N. Zhao S, et al. NPJ Genom Med. 2022 Feb 15;7(1):11. doi: 10.1038/s41525-021-00273-x. NPJ Genom Med. 2022. PMID: 35169139 Free PMC article.
Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and type 2B3 as well as contractures, pterygia and spondylocarpotarsal fusion syndromes types 1A and 1B. ...In this study, we summarize the clinical features and genetic findings of 17 patients from 10 unrelat …
Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and type 2B3 as well as contractures, pterygia and spondylocarpotarsa …
Mutation of the MYH3 gene causes recessive cleft palate in Limousine cattle.
Vaiman A, Fritz S, Beauvallet C, Boussaha M, Grohs C, Daniel-Carlier N, Relun A, Boichard D, Vilotte JL, Duchesne A. Vaiman A, et al. Genet Sel Evol. 2022 Oct 29;54(1):71. doi: 10.1186/s12711-022-00762-2. Genet Sel Evol. 2022. PMID: 36309651 Free PMC article.
Accordingly, mRNA and protein analyses in muscles from wild-type and affected animals revealed a decrease in MYH3 expression in affected animals, probably due to mRNA decay, as well as an absence of the MYH3 protein in these animals. MYH3 is mostly expressed …
Accordingly, mRNA and protein analyses in muscles from wild-type and affected animals revealed a decrease in MYH3 expression in affec …
Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.
Kamien B, Clayton JS, Lee HS, Abeysuriya D, McNamara E, Martinovic J, Gonzales M, Melki J, Ravenscroft G. Kamien B, et al. Neuromuscul Disord. 2022 May;32(5):445-449. doi: 10.1016/j.nmd.2022.03.007. Epub 2022 Mar 27. Neuromuscul Disord. 2022. PMID: 35484034
Missense variants in the gene encoding embryonic myosin heavy chain (MYH3) usually cause distal arthrogryposis. Recently, mono-allelic or bi-allelic MYH3 variants have been associated with contractures, pterygia, and spondylocarpotarsal fusion syndrome 1 (CPSFS1A an …
Missense variants in the gene encoding embryonic myosin heavy chain (MYH3) usually cause distal arthrogryposis. Recently, mono-alleli …
Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.
Hakonen AH, Lehtonen J, Kivirikko S, Keski-Filppula R, Moilanen J, Kivisaari R, Almusa H, Jakkula E, Saarela J, Avela K, Aittomäki K. Hakonen AH, et al. Am J Med Genet A. 2020 Nov;182(11):2605-2610. doi: 10.1002/ajmg.a.61836. Epub 2020 Sep 9. Am J Med Genet A. 2020. PMID: 32902138
(Tyr351Ter) and c.3102+5G>C, as compound heterozygous with the hypomorphic MYH3 variant c.-9+1G>A. Recessive MYH3 variants have been previously associated with spondylocarpotarsal synostosis syndrome. ...Our findings underline the importance of analyzing MY …
(Tyr351Ter) and c.3102+5G>C, as compound heterozygous with the hypomorphic MYH3 variant c.-9+1G>A. Recessive MYH3 varian …
238 results