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The Scientific World Journal
Volume 2015 (2015), Article ID 309410, 6 pages
http://dx.doi.org/10.1155/2015/309410
Research Article

First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis

1The Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South China, Changsha 410007, China
2The Special Inspection Department, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South China, Changsha 410007, China
3State Key Laboratory of Medical Genetics, Central South University, Changsha 410008, China
4Department of Ophthalmology, Xiangya 2nd Hospital, Central South University, Changsha 410013, China

Received 2 July 2014; Accepted 2 March 2015

Academic Editor: Tangui Maurice

Copyright © 2015 Yong-jia Yang et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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.