Whole Exome Sequencing of Czech Dysplasia in a Chinese pedigree

Czech dysplasia is a rare skeletal dysplasia with symptomology including platyspondyly, brachydactyly of the third and fourth toes, and early-onset of progressive pseudorheumatoid arthritis. The disorder segregates in an autosomal dominant fashion. A specific missense mutation (c.823C > T, R275C) in exon 13 of the COL2A1 gene has been identified in German and Japanese families. Whole-exome sequencing (WES) identified the COL2A1 missense mutation (c.823 C>T, R275C) in a Chinese familiy.