First Report ofCTNSMutations 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, severalCTNSmutations have been identified as the cause of the prototypic disease across different ethnic populations worldwide. However, in Asia, theCTNSmutation is very rarely reported. For the Chinese population, no literature onCTNSmutation screening for IC is available to date. In this paper, by using the whole exome sequencing and Sanger sequencing, we identified two novelCTNSsplicing deletions in a Chinese IC family, one at the donor site of exon 6 ofCTNS(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.