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

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

doi:10.3389/fmed.2023.1244888

Frontiers in Medicine (Nov 2023)

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

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

Affiliations

Mengfei Zhao: Department of Rheumatology, Shanghai Guanghua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, China
Mengfei Zhao: High Dependency Unit, Shanghai NO.3 Rehabilitation Hospital, Shanghai, China
Runrun Zhang: The Second Clinical Medical College, Zhejiang Chinese Medical University, Hangzhou, China
Runrun Zhang: Department of Rheumatology, The Second Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou, China
Cen Chang: Department of Rheumatology, Shanghai Guanghua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, China
Cen Chang: Arthritis Institute of Integrated Traditional and Western Medicine, Shanghai Chinese Medicine Research Institute, Shanghai, China
Yehua Jin: Department of Rheumatology, Shanghai Guanghua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, China
Lingxia Xu: Department of Rheumatology, Shanghai Guanghua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, China
Lingxia Xu: Arthritis Institute of Integrated Traditional and Western Medicine, Shanghai Chinese Medicine Research Institute, Shanghai, China
Shicheng Guo: Department of Medical Genetics, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, United States
Steven Schrodi: Department of Medical Genetics, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, United States
Yong He: Department of Orthopedics, Shanghai Guanghua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, China
Dongyi He: Department of Rheumatology, Shanghai Guanghua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, China
Dongyi He: Arthritis Institute of Integrated Traditional and Western Medicine, Shanghai Chinese Medicine Research Institute, Shanghai, China

DOI: https://doi.org/10.3389/fmed.2023.1244888
Journal volume & issue: Vol. 10

Abstract

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BackgroundCzech 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 summaryWe 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.ConclusionThis study is a thorough clinical and physiological description of Czech dysplasia in a Chinese patient.

Published in Frontiers in Medicine

ISSN: 2296-858X (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Medicine: Medicine (General)
Website: http://www.frontiersin.org/journals/medicine

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