title: First report of CTNS mutations in a Chinese family with infantile cystinosis.
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.
authors: The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha 410007, China.
authors: Yong-jia
authors: YJ
authors: Yang
authors: The Special Inspection Department, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha 410007, China.
authors: Yuan
authors: Y
authors: Hu
authors: The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha 410007, China.
authors: Rui
authors: R
authors: Zhao
authors: The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha 410007, China.
authors: Xinyu
authors: X
authors: He
authors: The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha 410007, China.
authors: Liu
authors: L
authors: Zhao
authors: The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha 410007, China.
authors: Ming
authors: M
authors: Tu
authors: The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha 410007, China.
authors: Lijun
authors: L
authors: Zhou
authors: State Key Laboratory of Medical Genetics, Central South University, Changsha 410008, China.
authors: Jihong
authors: J
authors: Guo
authors: State Key Laboratory of Medical Genetics, Central South University, Changsha 410008, China.
authors: Linqian
authors: L
authors: Wu
authors: Department of Ophthalmology, Xiangya 2nd Hospital, Central South University, Changsha 410013, China.
authors: Tantai
authors: T
authors: Zhao
authors: The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha 410007, China.
authors: Yi-min
authors: YM
authors: Zhu
mesh_terms: D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics*; D003554:Cystinosis; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D026921:Amino Acid Transport Systems, Neutral; C111445:CTNS protein, human