First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis
Joint Authors
Wu, Lingqian
Zhao, Rui
Zhao, Liu
Tu, Ming
Yang, Yong-jia
Hu, Yuan
He, Xinyu
Zhou, Lijun
Guo, Jihong
Zhao, Tantai
Zhu, Yi-min
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-03-17
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Medicine
Information Technology and Computer Science
Abstract EN
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.
American Psychological Association (APA)
Yang, Yong-jia& Hu, Yuan& Zhao, Rui& He, Xinyu& Zhao, Liu& Tu, Ming…[et al.]. 2015. First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis. The Scientific World Journal،Vol. 2015, no. 2015, pp.1-6.
https://search.emarefa.net/detail/BIM-1078661
Modern Language Association (MLA)
Yang, Yong-jia…[et al.]. First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis. The Scientific World Journal No. 2015 (2015), pp.1-6.
https://search.emarefa.net/detail/BIM-1078661
American Medical Association (AMA)
Yang, Yong-jia& Hu, Yuan& Zhao, Rui& He, Xinyu& Zhao, Liu& Tu, Ming…[et al.]. First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis. The Scientific World Journal. 2015. Vol. 2015, no. 2015, pp.1-6.
https://search.emarefa.net/detail/BIM-1078661
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1078661