{Reference Type}: Case Reports
{Title}: Case report: Whole exome sequencing and genome-wide methylation profiling of Czech dysplasia in a Chinese pedigree.
{Author}: Zhao M;Zhang R;Chang C;Jin Y;Xu L;Guo S;Schrodi S;He Y;He D;
{Journal}: Front Med (Lausanne)
{Volume}: 10
{Issue}: 0
{Year}: 2023
{Factor}: 5.058
{DOI}: 10.3389/fmed.2023.1244888
{Abstract}: <B>UNASSIGNED: </B>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 > T) in exon 13 of the COL2A1 gene has been identified in German and Japanese families.<BR><B>UNASSIGNED: </B>We 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.<BR><B>UNASSIGNED: </B>This study is a thorough clinical and physiological description of Czech dysplasia in a Chinese patient.