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=10

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=<sec id="sec1"><title>Background</title><p>Czech 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 &gt; T) in exon 13 of the <italic>COL2A1</italic> gene has been identified in German and Japanese families.</p></sec><sec id="sec2"><title>Case summary</title><p>We present the case of a Chinese woman diagnosed with Czech dysplasia (proband) who carried a variant in the <italic>COL2A1</italic> gene. Whole-exome sequencing (WES) identified the <italic>COL2A1</italic> missense mutation (R275C, c.823C &gt; T) in close relatives of the proband who also exhibited the same disorder.</p></sec><sec id="sec3"><title>Conclusion</title><p>This study is a thorough clinical and physiological description of Czech dysplasia in a Chinese patient.</p></sec>