A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family. Issue 4 (16th February 2021)

• Record Type: Journal Article
• Authors: Zhou, Tangjun; Yang, Xiao; Chen, Zhiqian; Zhou, Yifan; Cao, Xiankun; Zhao, Changqing; Zhao, Jie
• Is Part Of: Journal of clinical laboratory analysis. Volume 35:Issue 4(2021)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-02-16
• Subjects: Chinese population -- COL2A1 -- occipitocervical fusion -- odontoid process dysplasia -- spondyloepiphyseal dysplasia congenita (SEDC) -- upper cervical decompression; Diagnosis, Laboratory -- Periodicals; Medical laboratory technology -- Periodicals; 616
• DOI: 10.1002/jcla.23728
• Languages: English
• ISSNs: 0887-8013

Abstract

Abstract: Background: Spondyloepiphyseal dysplasia congenita is an autosomal dominant cartilaginous dysplasia characterized by short trunk, abnormal epiphysis, and flattened vertebral body. Skeletal features of SEDC are present at birth and evolve over time. Other features of SEDC include myopia and/or retinal degeneration with retinal detachment and cleft palate. A mutation in the COL2A1 gene located in 12q13.11 is considered as one of the important causes of SEDC. In 2016, Barat‐Houari et al. reported a large number of COL2A1 mutations. Among them, a non‐synonymous mutation in COL2A1 exon 37, c.2437G>A (p. Gly813Arg), has been reported to cause SEDC in only one patient from France so far. Methods: We followed up a patient with SEDC phenotype and his family members. The clinical manifestations, physical examination and imaging examination, including X‐ray, CT and MRI, were recorded. The whole‐exome sequencing was used to detect the patients' genes, and the pathogenic genes were screened out by comparing with many databases. Results: We report a Chinese patient with SEDC phenotype characterized by short trunk, abnormal epiphysis, flattened vertebral body, narrow intervertebral space, dysplasia of the odontoid process, chicken chest, scoliosis, hip and knee dysplasia, and joint hypertrophy. Gene sequencing analysis showed that the patient had a heterozygous mutation (c.2437G>A; p. Gly813Arg) in the COL2A1 gene. No COL2A1 mutation or SEDC phenotype was observed in his family members. This is the first report of SEDC caused by this mutation in an East Asian family. Conclusion: This report provides typical clinical, imaging, and genetic evidence for SEDC, confirming that a de novo mutation in the COL2A1 gene, c.2437G>A (p. Gly813Arg), causes SEDC in Chinese population. Abstract : We report a SEDC case with typical clinical, imaging, and genetic evidence, indicating that the de novo mutation of exon 37 c.2437G > A of COL2A1 cause the phenotype.