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Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.

Neuromuscular disorders : NMD - 1 May 2022

Kamien Benjamin, Clayton Joshua S, Lee Han-Shin, Abeysuriya Disna, McNamara Elyshia, Martinovic Jelena, Gonzales Marie, Melki Judith, Ravenscroft Gianina

Abstract excerpt

Arthrogryposis is a consequence of reduced fetal movements and arises due to environmental factors or underlying genetic defects, with extensive genetic heterogeneity. In many instances, the genes responsible are involved in neuromuscular function. Missense variants in the gene encoding embryonic myosin heavy chain (MYH3) usually cause distal arthrogryposis. Recently, mono-allelic or bi-allelic MYH3 variants have...

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PMID: 35484034
DOI: 10.1016/j.nmd.2022.03.007

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Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.PMID 35484034Read ↗

Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.Semantic proximity Read ↗

Clinical and Molecular Heterogeneity of MYH3-Related Arthrogryposis with a Novel MYH3 Variant.Semantic proximity Read ↗

Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis.Semantic proximity Read ↗

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.Semantic proximity Read ↗

Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.Semantic proximity Read ↗

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?Semantic proximity Read ↗

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3Semantic proximity Read ↗

Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia.Semantic proximity Read ↗

Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.Semantic proximity Read ↗

Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.Semantic proximity Read ↗

Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.Semantic proximity Read ↗

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disordersSemantic proximity Read ↗

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