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

ABSTRACT:

Background

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.

Case summary

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.

Conclusion

This study is a thorough clinical and physiological description of Czech dysplasia in a Chinese patient.

SUBMITTER: Zhao M

PROVIDER: S-EPMC10652562 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature

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

Zhao Mengfei M Zhang Runrun R Chang Cen C Jin Yehua Y Xu Lingxia L Guo Shicheng S Schrodi Steven S He Yong Y He Dongyi D

Frontiers in medicine 20231102

<h4>Background</h4>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 <i>COL2A1</i> gene has been identified in German and Japanese families.<h4>Case summary</h4>We present the case of a Chinese woman diagnosed with Czech dysplasia (prob ...[more]

PMID: 38020103

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