Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy
Introduction CEP152 encodes protein Cep152, which associates with centrosome function. The lack of Cep152 can cause centrosome duplication to fail. CEP152 mutates, causing several diseases such as Seckel syndrome-5 and primary microencephaly-9.
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Georg Thieme Verlag KG
2024-01-01
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| Series: | Global Medical Genetics |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1777807 |
| _version_ | 1797353692397043712 |
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| author | Weiran Li Xiaowei Lu Jianbo Shu Yingzi Cai Dong Li Chunquan Cai |
| author_facet | Weiran Li Xiaowei Lu Jianbo Shu Yingzi Cai Dong Li Chunquan Cai |
| author_sort | Weiran Li |
| collection | DOAJ |
| description |
Introduction CEP152 encodes protein Cep152, which associates with centrosome function. The lack of Cep152 can cause centrosome duplication to fail. CEP152 mutates, causing several diseases such as Seckel syndrome-5 and primary microencephaly-9. |
| first_indexed | 2024-03-08T13:34:43Z |
| format | Article |
| id | doaj.art-ce040169eaee4dd6a61582a7cb890c55 |
| institution | Directory Open Access Journal |
| issn | 2699-9404 |
| language | English |
| last_indexed | 2024-03-08T13:34:43Z |
| publishDate | 2024-01-01 |
| publisher | Georg Thieme Verlag KG |
| record_format | Article |
| series | Global Medical Genetics |
| spelling | doaj.art-ce040169eaee4dd6a61582a7cb890c552024-01-17T00:01:39ZengGeorg Thieme Verlag KGGlobal Medical Genetics2699-94042024-01-01110102002410.1055/s-0043-1777807Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of EpilepsyWeiran Li0Xiaowei Lu1Jianbo Shu2Yingzi Cai3Dong Li4Chunquan Cai5Graduate College of Tianjin Medical University, Tianjin, People's Republic of ChinaTianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin, People's Republic of ChinaTianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin, People's Republic of ChinaTianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin, People's Republic of ChinaTianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin, People's Republic of ChinaTianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin, People's Republic of China Introduction CEP152 encodes protein Cep152, which associates with centrosome function. The lack of Cep152 can cause centrosome duplication to fail. CEP152 mutates, causing several diseases such as Seckel syndrome-5 and primary microencephaly-9.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1777807 CEP152 compound-heterozygousvariantsphenotypesWESSanger sequencing |
| spellingShingle | Weiran Li Xiaowei Lu Jianbo Shu Yingzi Cai Dong Li Chunquan Cai Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy Global Medical Genetics CEP152 compound-heterozygous variants phenotypes WES Sanger sequencing |
| title | Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy |
| title_full | Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy |
| title_fullStr | Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy |
| title_full_unstemmed | Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy |
| title_short | Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy |
| title_sort | novel variants of cep152 in a case of compound heterozygous inheritance of epilepsy |
| topic | CEP152 compound-heterozygous variants phenotypes WES Sanger sequencing |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1777807 |
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