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It serves as a prototype for lysosomal transport disorders. To date, several <jats:italic>CTNS<\/jats:italic> mutations have been identified as the cause of the prototypic disease across different ethnic populations worldwide. However, in Asia, the <jats:italic>CTNS<\/jats:italic> mutation is very rarely reported. For the Chinese population, no literature on <jats:italic>CTNS<\/jats:italic> mutation screening for IC is available to date. In this paper, by using the whole exome sequencing and Sanger sequencing, we identified two novel <jats:italic>CTNS<\/jats:italic> splicing deletions in a Chinese IC family, one at the donor site of exon 6 of <jats:italic>CTNS<\/jats:italic> (IVS6+1, del G) and the other at the acceptor site of exon 8 (IVS8\u20101, del GT). These data give information for the genetic counseling of the IC that occurred in Chinese population.<\/jats:p>","DOI":"10.1155\/2015\/309410","type":"journal-article","created":{"date-parts":[[2015,3,17]],"date-time":"2015-03-17T22:33:52Z","timestamp":1426631632000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["First Report of <i>CTNS<\/i> Mutations in a Chinese Family with Infantile 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