Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome
CHARGE syndrome is a life-threatening disease caused by mutations of chromodomain helicase DNA-binding protein 7 gene (CHD7). The disease is characterized by a pattern of congenital anomalies that involve multiple organs. In this study, five patients were diagnosed as CHARGE syndrome with CHD7 mutat...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2020-06-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fgene.2020.00592/full |
| _version_ | 1819043397871075328 |
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| author | Zailong Qin Jiasun Su Mengting Li Qi Yang Shang Yi Haiyang Zheng Qiang Zhang Fei Chen Sheng Yi Weiliang Lu Wei Li Limei Huang Jing Xu Yiping Shen Yiping Shen Jingsi Luo |
| author_facet | Zailong Qin Jiasun Su Mengting Li Qi Yang Shang Yi Haiyang Zheng Qiang Zhang Fei Chen Sheng Yi Weiliang Lu Wei Li Limei Huang Jing Xu Yiping Shen Yiping Shen Jingsi Luo |
| author_sort | Zailong Qin |
| collection | DOAJ |
| description | CHARGE syndrome is a life-threatening disease caused by mutations of chromodomain helicase DNA-binding protein 7 gene (CHD7). The disease is characterized by a pattern of congenital anomalies that involve multiple organs. In this study, five patients were diagnosed as CHARGE syndrome with CHD7 mutations by whole exome sequencing. Although the clinical phenotypes of probands are highly variable and typical symptoms such as coloboma and choanal atresia are not commonly manifested in this cohort, they all presented congenital heart defects. Of note, dyspnea is the most prominent symptom in all five neonatal patients, suggesting that dyspnea might be a phenotypic clue of CHARGE syndrome. |
| first_indexed | 2024-12-21T09:56:08Z |
| format | Article |
| id | doaj.art-de5232507999436a96aefeea9ccf63f5 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-21T09:56:08Z |
| publishDate | 2020-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-de5232507999436a96aefeea9ccf63f52022-12-21T19:08:04ZengFrontiers Media S.A.Frontiers in Genetics1664-80212020-06-011110.3389/fgene.2020.00592530885Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE SyndromeZailong Qin0Jiasun Su1Mengting Li2Qi Yang3Shang Yi4Haiyang Zheng5Qiang Zhang6Fei Chen7Sheng Yi8Weiliang Lu9Wei Li10Limei Huang11Jing Xu12Yiping Shen13Yiping Shen14Jingsi Luo15Genetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, ChinaGenetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, ChinaGenetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, ChinaGenetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, ChinaGenetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, ChinaGenetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, ChinaGenetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, ChinaGenetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, ChinaGenetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, ChinaGenetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, ChinaGenetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, ChinaGenetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, ChinaDepartment of Neonatology, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, ChinaGenetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, ChinaDepartment of Genetics, Harvard Medical School, Boston, MA, United StatesGenetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, ChinaCHARGE syndrome is a life-threatening disease caused by mutations of chromodomain helicase DNA-binding protein 7 gene (CHD7). The disease is characterized by a pattern of congenital anomalies that involve multiple organs. In this study, five patients were diagnosed as CHARGE syndrome with CHD7 mutations by whole exome sequencing. Although the clinical phenotypes of probands are highly variable and typical symptoms such as coloboma and choanal atresia are not commonly manifested in this cohort, they all presented congenital heart defects. Of note, dyspnea is the most prominent symptom in all five neonatal patients, suggesting that dyspnea might be a phenotypic clue of CHARGE syndrome.https://www.frontiersin.org/article/10.3389/fgene.2020.00592/fullCHD7CHARGE syndromedyspneaneonatemutation |
| spellingShingle | Zailong Qin Jiasun Su Mengting Li Qi Yang Shang Yi Haiyang Zheng Qiang Zhang Fei Chen Sheng Yi Weiliang Lu Wei Li Limei Huang Jing Xu Yiping Shen Yiping Shen Jingsi Luo Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome Frontiers in Genetics CHD7 CHARGE syndrome dyspnea neonate mutation |
| title | Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome |
| title_full | Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome |
| title_fullStr | Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome |
| title_full_unstemmed | Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome |
| title_short | Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome |
| title_sort | clinical and genetic analysis of chd7 expands the genotype and phenotype of charge syndrome |
| topic | CHD7 CHARGE syndrome dyspnea neonate mutation |
| url | https://www.frontiersin.org/article/10.3389/fgene.2020.00592/full |
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