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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.

SUBMITTER: Yang YJ 

PROVIDER: S-EPMC4381850 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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First report of CTNS mutations in a Chinese family with infantile cystinosis.

Yang Yong-jia YJ   Hu Yuan Y   Zhao Rui R   He Xinyu X   Zhao Liu L   Tu Ming M   Zhou Lijun L   Guo Jihong J   Wu Linqian L   Zhao Tantai T   Zhu Yi-min YM  

TheScientificWorldJournal 20150317


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  ...[more]

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