Clinical utility gene card for: cystinosis

Affiliations

¹ Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium.
² 1] Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium [2] Department of Pediatric Nephrology, Radboud University Nijmegen, Nijmegen, The Netherlands.
³ Division of Nephrology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
⁴ 1] Inserm U983, Institut Imagine, Université Paris Descartes, Paris, France [2] Department of Genetics, Assistance Publique, Hôpitaux de Paris, Necker Hospital, Paris, France.

Elena Levtchenko et al. Eur J Hum Genet. 2014 May.

. 2014 May;22(5).

doi: 10.1038/ejhg.2013.204. Epub 2013 Sep 18.

¹ Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium.
² 1] Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium [2] Department of Pediatric Nephrology, Radboud University Nijmegen, Nijmegen, The Netherlands.
³ Division of Nephrology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
⁴ 1] Inserm U983, Institut Imagine, Université Paris Descartes, Paris, France [2] Department of Genetics, Assistance Publique, Hôpitaux de Paris, Necker Hospital, Paris, France.

No abstract available

References

1. Town M, Jean G, Cherqui S, et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet. 1998;18:319–324. - PubMed
1. Forestier L, Jean G, Attard M, et al. Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay. Am J Hum Genet. 1999;65:353–359. - PMC - PubMed
1. Kalatzis V, Cohen-Solal L, Cordier B, et al. Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. Hum Mutat. 2002;20:439–446. - PubMed
1. Mason S, Pepe G, Dall'Amico R, et al. Mutational spectrum of the CTNS gene in Italy. Eur J Hum Genet. 2003;11:503–508. - PubMed
1. Phornphutkul C, Anikster Y, Huizing M, et al. The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region. Am J Hum Genet. 2001;69:712–721. - PMC - PubMed