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

4Citations
Citations of this article
11Readers
Mendeley users who have this article in their library.

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.

Cite

CITATION STYLE

APA

Yang, Y. J., Hu, Y., Zhao, R., He, X., Zhao, L., Tu, M., … Zhu, Y. M. (2015). First report of CTNS mutations in a Chinese family with infantile cystinosis. Scientific World Journal, 2015. https://doi.org/10.1155/2015/309410

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free