European Journal of Human Genetics - Clinical utility gene card for: Cystinosis

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European Journal of Human Genetics - Clinical utility gene card for: Cystinosis

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 18 September 2013; doi: 10.1038/ejhg.2013.204

Clinical utility gene card for: Cystinosis

Elena Levtchenko¹, Lambertus van den Heuvel^1,2, Francesco Emma³ and Corinne Antignac^4,5

1. ¹Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium


2. ²Department of Pediatric Nephrology, Radboud University Nijmegen, Nijmegen, The Netherlands


3. ³Division of Nephrology, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy


4. ⁴Inserm U983, Institut Imagine, Université Paris Descartes, Paris, France


5. ⁵Department of Genetics, Assistance Publique, Hôpitaux de Paris, Necker Hospital, Paris, France

Correspondence: Professor E Levtchenko, Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven, Katholieke Universiteit Leuven, Herestraat 49, 3000 Leuven, Belgium. Tel: +32 16 343822; Fax: +32 16 343842; E-mail: elena.levtchenko@uzleuven.be

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1. DISEASE CHARACTERISTICS

1.1 Name of the disease (synonyms)

Cystinosis.

1.2 OMIM# of the disease

Nephropathic infantile form (MIM #219800), nephropathic juvenile form (MIM #219900) and non-nephropathic adult form (MIM #219750).

1.3 Name of the analysed genes or DNA/chromosome segments

CTNS, 17p13.2.

1.4 OMIM# of the gene(s)

606272.

1.5 Mutational spectrum

Multi-exon 57-kb deletion, small insertions, deletions, duplications, point mutations (missense, nonsense), splice-site mutations, promoter mutations, genomic rearrangements.^{1, 2, 3, 4, 5, 6}

The 57-kb deletion is detected in up to 76% of affected northern European alleles and is due to a founder effect arising around the middle of the first millennium AD.^{1, 2}

Currently, approximately 100 mutations in the CTNS are described by HGMD (http://www.hgmd.cf.ac.uk/ac/index.php), however, novel mutations are still being reported, especially when genetically different populations are tested.^{7, 8}

The standard reference sequence indicating reported variants (ENSG00000040531) and a reference for exon numbering (ENST00000046640) can be found at www.ensembl.org.