The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations
Background: CODAS syndrome (MIM 600373) is a multi-system developmental disorder characterized by cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is rare in the world and no cases have been reported in Chinese population so far. Mutations in the LONP1 gene can contribute...
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Frontiers Media S.A.
2023-01-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.1031856/full |
| _version_ | 1797962186214080512 |
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| author | Yi Tang Yu-Xing Liu Yue Sheng Liang-Liang Fan Ai-Qian Zhang Zhao-Fen Zheng |
| author_facet | Yi Tang Yu-Xing Liu Yue Sheng Liang-Liang Fan Ai-Qian Zhang Zhao-Fen Zheng |
| author_sort | Yi Tang |
| collection | DOAJ |
| description | Background: CODAS syndrome (MIM 600373) is a multi-system developmental disorder characterized by cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is rare in the world and no cases have been reported in Chinese population so far. Mutations in the LONP1 gene can contribute to CODAS syndrome, while the underlying molecular mechanisms requires further investigation.Method: We described a Chinese boy who has suffered from cognition impairment, cataracts, caries, abnormal auricle and skeletal anomalies since birth. The patient’s parents are non-consanguineous and healthy. Whole-exome sequencing (WES) was employed to explore the genetic entity of this family.Results: A compound heterozygous missense mutation (NM_004793: c.2009C>T/p.A670V and c.2014C>T/p.R672C) of LONP1 was identified in the patient. Considering the clinical phenotypes and genetic results, the patient was diagnosed as CODAS syndrome.Conclusion: Here we reported the first case with CODAS syndrome in Chinese population. WES identified a compound heterozygous missense mutation of LONP1 gene in the patients. Our study not only provided data for genetic counseling and clinical diagnosis to this family, but also expanded the clinical spectrum of LONP1-related CODAS syndrome. |
| first_indexed | 2024-04-11T01:09:24Z |
| format | Article |
| id | doaj.art-12bd25d3051846568377157240eaf4ec |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-11T01:09:24Z |
| publishDate | 2023-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-12bd25d3051846568377157240eaf4ec2023-01-04T07:35:15ZengFrontiers Media S.A.Frontiers in Genetics1664-80212023-01-011310.3389/fgene.2022.10318561031856The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutationsYi Tang0Yu-Xing Liu1Yue Sheng2Liang-Liang Fan3Ai-Qian Zhang4Zhao-Fen Zheng5Department of Cardiology, Hunan Provincial People’s Hospital, The First Afliated Hospital of Hunan Normal University, Clinical Medicine Research Center of Heart Failure of Hunan Province, Hunan Normal University, Changsha, ChinaDepartment of Cell Biology, School of Life Sciences, Central South University, Changsha, ChinaDepartment of Cell Biology, School of Life Sciences, Central South University, Changsha, ChinaDepartment of Cell Biology, School of Life Sciences, Central South University, Changsha, ChinaDepartment of Obstetrics and Gynecology, Third Xiangya Hospital of Central South University, Changsha, ChinaDepartment of Cardiology, Hunan Provincial People’s Hospital, The First Afliated Hospital of Hunan Normal University, Clinical Medicine Research Center of Heart Failure of Hunan Province, Hunan Normal University, Changsha, ChinaBackground: CODAS syndrome (MIM 600373) is a multi-system developmental disorder characterized by cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is rare in the world and no cases have been reported in Chinese population so far. Mutations in the LONP1 gene can contribute to CODAS syndrome, while the underlying molecular mechanisms requires further investigation.Method: We described a Chinese boy who has suffered from cognition impairment, cataracts, caries, abnormal auricle and skeletal anomalies since birth. The patient’s parents are non-consanguineous and healthy. Whole-exome sequencing (WES) was employed to explore the genetic entity of this family.Results: A compound heterozygous missense mutation (NM_004793: c.2009C>T/p.A670V and c.2014C>T/p.R672C) of LONP1 was identified in the patient. Considering the clinical phenotypes and genetic results, the patient was diagnosed as CODAS syndrome.Conclusion: Here we reported the first case with CODAS syndrome in Chinese population. WES identified a compound heterozygous missense mutation of LONP1 gene in the patients. Our study not only provided data for genetic counseling and clinical diagnosis to this family, but also expanded the clinical spectrum of LONP1-related CODAS syndrome.https://www.frontiersin.org/articles/10.3389/fgene.2022.1031856/fullCODAS syndromeLONP1mutationwhole-exome sequencingcompound heterozygote |
| spellingShingle | Yi Tang Yu-Xing Liu Yue Sheng Liang-Liang Fan Ai-Qian Zhang Zhao-Fen Zheng The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations Frontiers in Genetics CODAS syndrome LONP1 mutation whole-exome sequencing compound heterozygote |
| title | The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations |
| title_full | The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations |
| title_fullStr | The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations |
| title_full_unstemmed | The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations |
| title_short | The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations |
| title_sort | first case report of codas syndrome in chinese population caused by two lonp1 pathogenic mutations |
| topic | CODAS syndrome LONP1 mutation whole-exome sequencing compound heterozygote |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.1031856/full |
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