%0 Case Reports
%T Case report: Whole exome sequencing and genome-wide methylation profiling of Czech dysplasia in a Chinese pedigree.
%A Zhao M
%A Zhang R
%A Chang C
%A Jin Y
%A Xu L
%A Guo S
%A Schrodi S
%A He Y
%A He D
%J Front Med (Lausanne)
%V 10
%N 0
%D 2023
%M 38020103
%F 5.058
%R 10.3389/fmed.2023.1244888
%X <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.