AUTHOR=Zhao Mengfei , Zhang Runrun , Chang Cen , Jin Yehua , Xu Lingxia , Guo Shicheng , Schrodi Steven , He Yong , He Dongyi 

TITLE=Case report: Whole exome sequencing and genome-wide methylation profiling of Czech dysplasia in a Chinese pedigree

JOURNAL=Frontiers in Medicine

VOLUME=Volume 10 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2023.1244888

DOI=10.3389/fmed.2023.1244888

ISSN=2296-858X

ABSTRACT=Background: Czech dysplasia is a rare skeletal dysplasia with symptomology 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 Summary: We report the case of a Chinese female 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 exhibited the same disorder. Conclusion: This study is a thorough clinical and physiological description of Czech dysplasia in a Chinese patient.