First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis
Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders. To date, several CTNS mutations have been identified as the cause of the prototypic disease...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | The Scientific World Journal |
| Online Access: | http://dx.doi.org/10.1155/2015/309410 |
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| author | Yong-jia Yang Yuan Hu Rui Zhao Xinyu He Liu Zhao Ming Tu Lijun Zhou Jihong Guo Linqian Wu Tantai Zhao Yi-min Zhu |
| author_facet | Yong-jia Yang Yuan Hu Rui Zhao Xinyu He Liu Zhao Ming Tu Lijun Zhou Jihong Guo Linqian Wu Tantai Zhao Yi-min Zhu |
| author_sort | Yong-jia Yang |
| collection | DOAJ |
| description | Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders. To date, several CTNS mutations have been identified as the cause of the prototypic disease across different ethnic populations worldwide. However, in Asia, the CTNS mutation is very rarely reported. For the Chinese population, no literature on CTNS mutation screening for IC is available to date. In this paper, by using the whole exome sequencing and Sanger sequencing, we identified two novel CTNS splicing deletions in a Chinese IC family, one at the donor site of exon 6 of CTNS (IVS6+1, del G) and the other at the acceptor site of exon 8 (IVS8-1, del GT). These data give information for the genetic counseling of the IC that occurred in Chinese population. |
| format | Article |
| id | doaj-art-4a249d59028b44c197bd6ef410d5e163 |
| institution | Kabale University |
| issn | 2356-6140 1537-744X |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | The Scientific World Journal |
| spelling | doaj-art-4a249d59028b44c197bd6ef410d5e1632025-02-03T06:14:02ZengWileyThe Scientific World Journal2356-61401537-744X2015-01-01201510.1155/2015/309410309410First Report of CTNS Mutations in a Chinese Family with Infantile CystinosisYong-jia Yang0Yuan Hu1Rui Zhao2Xinyu He3Liu Zhao4Ming Tu5Lijun Zhou6Jihong Guo7Linqian Wu8Tantai Zhao9Yi-min Zhu10The Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South China, Changsha 410007, ChinaThe Special Inspection Department, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South China, Changsha 410007, ChinaThe Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South China, Changsha 410007, ChinaThe Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South China, Changsha 410007, ChinaThe Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South China, Changsha 410007, ChinaThe Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South China, Changsha 410007, ChinaThe Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South China, Changsha 410007, ChinaState Key Laboratory of Medical Genetics, Central South University, Changsha 410008, ChinaState Key Laboratory of Medical Genetics, Central South University, Changsha 410008, ChinaDepartment of Ophthalmology, Xiangya 2nd Hospital, Central South University, Changsha 410013, ChinaThe Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South China, Changsha 410007, ChinaInfantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders. To date, several CTNS mutations have been identified as the cause of the prototypic disease across different ethnic populations worldwide. However, in Asia, the CTNS mutation is very rarely reported. For the Chinese population, no literature on CTNS mutation screening for IC is available to date. In this paper, by using the whole exome sequencing and Sanger sequencing, we identified two novel CTNS splicing deletions in a Chinese IC family, one at the donor site of exon 6 of CTNS (IVS6+1, del G) and the other at the acceptor site of exon 8 (IVS8-1, del GT). These data give information for the genetic counseling of the IC that occurred in Chinese population.http://dx.doi.org/10.1155/2015/309410 |
| spellingShingle | Yong-jia Yang Yuan Hu Rui Zhao Xinyu He Liu Zhao Ming Tu Lijun Zhou Jihong Guo Linqian Wu Tantai Zhao Yi-min Zhu First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis The Scientific World Journal |
| title | First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis |
| title_full | First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis |
| title_fullStr | First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis |
| title_full_unstemmed | First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis |
| title_short | First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis |
| title_sort | first report of ctns mutations in a chinese family with infantile cystinosis |
| url | http://dx.doi.org/10.1155/2015/309410 |
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