Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia–cystinuria syndrome
1 Reference Center for inborn metabolic disorders, CHU de la Timone, Marseille, France
2 Laboratory for Biochemical Neuroendocrinology, Center for Human Genetics, University of Leuven, Belgium
3 Laboratory for Molecular Diagnosis, Center for Human Genetics, University of Leuven, Belgium
4 Center for Metabolic Disease, University of Leuven, Belgium
Correspondence to:
john.creemers{at}med.kuleuven.be
Hypotonia–cystinuria syndrome (HCS) and 2p21 deletion syndrome are two recessive contiguous gene deletion syndromes associated with cystinuria type I. In HCS patients, only SLC3A1 and PREPL are disrupted. In the 2p21 deletion syndrome, two additional genes (C2orf34 and PPM1B) are lost. Molecular analysis of the SLC3A1/PREPL locus was performed in the patients using quantitative polymerase chain reaction (PCR) methods. HCS in both siblings was confirmed with the deletion screen of the SLC3A1/PREPL locus. Fine mapping of the breakpoint revealed a deletion of 77.4 kb, including three genes: SLC3A1, PREPL and C2orf34. Features not present in classical HCS were a mild/moderate mental retardation and a respiratory chain complex IV deficiency. We report the first patients with a deletion of SLC3A1, PREPL and C2orf34. They present with a phenotype intermediate between HCS and 2p21 deletion syndrome.
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
- Full Text
- Submit a response
- Alert me when this article is cited
- Alert me when eLetters are posted
- Alert me if a correction is posted
Services
- Email this link to a friend
- Similar articles in this journal
- Add article to my folders
- Download to citation manager
- Request Permissions
Citing Articles
Google Scholar
PubMed
Topic Collections
Bookmark with
Register for free content
The full text of all Editor's Choice articles and summaries of every article are free without registration
The full text of Images in ... articles are free to registered users
Only fellows can access the full text of case reports (apart from Editor's Choice) - become a fellow today, or encourage your institution to, so that together we can grow and develop this resource
Don't forget to sign up for content alerts so you keep up to date with all the case reports as they are published, and let us know what you think by commenting on the Editor's blog
