Case report: Whole exome sequencing and genome-wide methylation profiling of Czech dysplasia in a Chinese pedigree
oleh: Mengfei Zhao, Mengfei Zhao, Runrun Zhang, Runrun Zhang, Cen Chang, Cen Chang, Yehua Jin, Lingxia Xu, Lingxia Xu, Shicheng Guo, Steven Schrodi, Yong He, Dongyi He, Dongyi He
| Format: | Article |
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| Diterbitkan: | Frontiers Media S.A. 2023-11-01 |
Deskripsi
BackgroundCzech dysplasia is a rare skeletal disorder with symptomatology including platyspondyly, brachydactyly of the third and fourth toes, and early-onset progressive pseudorheumatoid arthritis. The disorder segregates in an autosomal dominant fashion. A specific missense mutation (R275C, c.823C > T) in exon 13 of the COL2A1 gene has been identified in German and Japanese families.Case summaryWe present the case of a Chinese woman diagnosed with Czech dysplasia (proband) who carried a variant in the COL2A1 gene. Whole-exome sequencing (WES) identified the COL2A1 missense mutation (R275C, c.823C > T) in close relatives of the proband who also exhibited the same disorder.ConclusionThis study is a thorough clinical and physiological description of Czech dysplasia in a Chinese patient.