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

Gene - 10 Jun 2013

Zhang Zeng, Zhao Shi-Chang, He Jin-Wei, Fu Wen-Zhen, Zhang Chang-Qing, Zhang Zhen-Lin

Abstract excerpt

Spondyloperipheral dysplasia (SPD; OMIM 271700) is an autosomal dominant connective tissue disorder characterized by vertebral body abnormalities (platyspondyly, end-plate indentations), hip dysplasia and brachydactyly type E. Here, we identified a novel truncating mutation (p.Lys1444AsnfsX27) in the C-propeptide of type II collagen in an affected Chinese individual with SPD. Our findings will provide clues to...

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PMID: 23545312
DOI: 10.1016/j.gene.2013.03.083

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

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