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Article

An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.

American journal of human genetics - 1 Feb 1995

Tiller G E, Weis M A, Polumbo P A, Gruber H E, Rimoin D L, Cohn D H, Eyre D R

Abstract excerpt

Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita (SEDC), Kniest dysplasia, and Stickler syndrome. We have determined that cartilage from a terminated fetus with an inherited form of SEDC contained both normal alpha 1(II) collagen chains and chains that lacked amino acids...

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PMID: 7847372
PMCID: PMC1801144

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An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.PMID 7847372Read ↗

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Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.Semantic proximity Read ↗

COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II.Semantic proximity Read ↗

Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.Semantic proximity Read ↗

A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.Semantic proximity Read ↗

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Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.Semantic proximity Read ↗

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Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.Semantic proximity Read ↗

Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.Semantic proximity Read ↗

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