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Disease Report for: Hypotonia-Cystinuria Syndrome

Alternative name(s)|Cystinuria with mitochondrial disease
Homozygous 2p16 deletion syndrome, formerly
Mutation|10 mutations (e.g. : 2p21del_human-PREPL, DelA_human-PREPL, DelB_human-PREPL... more)
OMIM: |606407, 609557

Parvari et al. (2001, 2005) identified PREPL as one of the genes deleted in the homozygous 2p21 deletion syndrome. Jaeken et al. (2006) studied 11 patients with the hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. They found microdeletion of part of the SLC3A1 and PREPL genes on 2p21. Since loss-of-function mutations in SLC3A1 were known to cause isolated cystinuria type I , and since the expression of the flanking genes, C2orf34 and PPM1B, was normal, the extended phenotype could be attributed to deletion of PREPL.

    Title: PREPL deficiency: delineation of the phenotype and development of a functional blood assay
    Regal L, Martensson E, Maystadt I, Voermans N, Lederer D, Burlina A, Juan Fita MJ, Hoogeboom AJM, Olsson Engman M and Creemers JWM <7 more author(s)>
    Ref: Genet Med, 20:109, 2018 : PubMed


    Title: PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome
    Regal L, Shen XM, Selcen D, Verhille C, Meulemans S, Creemers JW, Engel AG
    Ref: Neurology, 82:1254, 2014 : PubMed


    Title: Two novel deletions in hypotonia-cystinuria syndrome
    Regal L, Aydin HI, Dieltjens AM, Van Esch H, Francois I, Okur I, Zeybek C, Meulemans S, Van Mol C and Creemers J <3 more author(s)>
    Ref: Mol Genet Metab, 107:614, 2012 : PubMed


    Title: PREPL, a prolyl endopeptidase-like enzyme by name only?--Lessons from patients
    Boonen K, Regal L, Jaeken J, Creemers JW
    Ref: CNS Neurol Disord Drug Targets, 10:355, 2011 : PubMed


    Title: Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome
    Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, Creemers JW
    Ref: Journal of Medical Genetics, 45:314, 2008 : PubMed


    Title: Multi-system disorder syndromes associated with cystinuria type I
    Martens K, Jaeken J, Matthijs G, Creemers JW
    Ref: Curr Mol Med, 8:544, 2008 : PubMed


    Title: Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome
    Martens K, Heulens I, Meulemans S, Zaffanello M, Tilstra D, Hes FJ, Rooman R, Francois I, de Zegher F and Creemers JW <2 more author(s)>
    Ref: Eur J Hum Genet, 15:1029, 2007 : PubMed


    Title: Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome
    Jaeken J, Martens K, Francois I, Eyskens F, Lecointre C, Derua R, Meulemans S, Slootstra JW, Waelkens E and Matthijs G <2 more author(s)>
    Ref: American Journal of Human Genetics, 78:38, 2006 : PubMed


    Title: The 2p21 deletion syndrome: characterization of the transcription content
    Parvari R, Gonen Y, Alshafee I, Buriakovsky S, Regev K, Hershkovitz E
    Ref: Genomics, 86:195, 2005 : PubMed


    Title: A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease
    Parvari R, Brodyansky I, Elpeleg O, Moses S, Landau D, Hershkovitz E
    Ref: American Journal of Human Genetics, 69:869, 2001 : PubMed


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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