PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: This study is a thorough clinical and physiological description of Czech dysplasia in a Chinese patient.
UNASSIGNED: 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.
UNASSIGNED: This study is a thorough clinical and physiological description of Czech dysplasia in a Chinese patient.
摘要：
■捷克人发育不良是一种罕见的骨骼疾病，其症状包括桔梗，第三和第四脚趾的短指，和早发性进行性假性类风湿关节炎。该疾病以常染色体显性遗传方式分离。特定的错义突变（R275C，在德国和日本家族中已鉴定出COL2A1基因外显子13中的c.823C>T）。
■我们介绍了一名被诊断患有捷克发育不良（先证者）的中国妇女的病例，该妇女携带COL2A1基因的变异。全外显子组测序（WES）鉴定了COL2A1错义突变（R275C，c.823C>T）在先证者的近亲中也表现出相同的疾病。
■这项研究是对一名中国患者的捷克发育不良的全面临床和生理描述。
■我们介绍了一名被诊断患有捷克发育不良（先证者）的中国妇女的病例，该妇女携带COL2A1基因的变异。全外显子组测序（WES）鉴定了COL2A1错义突变（R275C，c.823C>T）在先证者的近亲中也表现出相同的疾病。
■这项研究是对一名中国患者的捷克发育不良的全面临床和生理描述。
