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Spondyloperipheral dysplasia is caused by truncating mutations in the C‐propeptide of COL2A1

29 Jun 2004

Abstract excerpt

The term "spondyloperipheral dysplasia" (SPD) has been applied to the unusual combination of platyspondyly and brachydactyly as observed in a small number of individuals. The reported cases show wide clinical variability and the nosologic status and spectrum of this condition are still ill defined. Zabel et al. [1996: Am J Med Genet 63(1):123-128] reported an individual with short stature and SPD who was...

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PMID: 15316962
DOI: 10.1002/ajmg.a.30222

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Spondyloperipheral dysplasia is caused by truncating mutations in the C‐propeptide of COL2A1PMID 15316962Read ↗

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.Semantic proximity Read ↗

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasiaSemantic proximity Read ↗

Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with spondyloperipheral dysplasia.Semantic proximity Read ↗

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation.Semantic proximity Read ↗

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.Semantic proximity Read ↗

PAPSS2 mutations cause autosomal recessive brachyolmia.Semantic proximity Read ↗

A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene.Semantic proximity Read ↗

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.Semantic proximity Read ↗

Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype.Semantic proximity Read ↗

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Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.Semantic proximity Read ↗

Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD).Semantic proximity Read ↗

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