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

Mengfei Zhao; Runrun Zhang; Cen Chang; Yehua Jin; Lingxia Xu; Shicheng Guo; Steven Schrodi; Yong He; Dongyi He

doi:10.3389/fmed.2023.1244888

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

Front Med (Lausanne). 2023 Nov 2:10:1244888. doi: 10.3389/fmed.2023.1244888. eCollection 2023.

Authors

Mengfei Zhao^#^{1

2}, Runrun Zhang^#^{3

4}, Cen Chang^{1

5}, Yehua Jin¹, Lingxia Xu^{1

5}, Shicheng Guo⁶, Steven Schrodi⁶, Yong He⁷, Dongyi He^{1

5}

Affiliations

¹ Department of Rheumatology, Shanghai Guanghua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, China.
² High Dependency Unit, Shanghai NO.3 Rehabilitation Hospital, Shanghai, China.
³ The Second Clinical Medical College, Zhejiang Chinese Medical University, Hangzhou, China.
⁴ Department of Rheumatology, The Second Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou, China.
⁵ Arthritis Institute of Integrated Traditional and Western Medicine, Shanghai Chinese Medicine Research Institute, Shanghai, China.
⁶ Department of Medical Genetics, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, United States.
⁷ Department of Orthopedics, Shanghai Guanghua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, China.

^# Contributed equally.

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.

Keywords: COL2A1; Chinese pedigree; Czech dysplasia; mutation; whole exome-sequencing.

Publication types

Case Reports

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This work was funded by the National Natural Science Funds of China (82074234); the Shanghai Chinese Medicine Development Office, National Administration of Traditional Chinese Medicine, Regional Chinese Medicine (Specialist) Diagnosis and Treatment Center Construction Project-Rheumatology; the State Administration of Traditional Chinese Medicine, National TCM Evidence-Based Medicine Research and Construction Project, Basic TCM Evidence-Based Capacity Development Program; the Shanghai Municipal Health Commission, East China Region-based Chinese and Western Medicine Joint Disease Specialist Alliance; and the National Key Research and Development Project (No. 2018YFC1705200 and 2018YFC1705203).