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Article

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

American journal of human genetics - 7 May 2015

Chong Jessica X, Burrage Lindsay C, Beck Anita E, Marvin Colby T, McMillin Margaret J, Shively Kathryn M, Harrell Tanya M, Buckingham Kati J, Bacino Carlos A, Jain Mahim, Alanay Yasemin, Berry Susan A, Carey John C, Gibbs Richard A, Lee Brendan H, Krakow Deborah, Shendure Jay, Nickerson Deborah A, Bamshad Michael J

Abstract excerpt

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...

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Source

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Identifiers

PMID: 25957469
DOI: 10.1016/j.ajhg.2015.04.004
PMCID: PMC4570285

Genes

MYH3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.PMID 25957469Read ↗

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

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

The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.Semantic proximity Read ↗

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

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

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

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

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

A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum.Semantic proximity Read ↗

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

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

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