Alternative name(s) : Cystinuria with mitochondrial disease, Homozygous 2p16 deletion syndrome, formerly
Gene_locus : 1
Mutation : 10
Comment
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 : A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement - Taroni_2019_Front.Pediatr_7_127 |
| Author(s) : Taroni F , Capone V , Berrettini A , De Marco EA , Manzoni GA , Montini G |
| Ref : Front Pediatr , 7 :127 , 2019 |
| Abstract : |
| PubMedSearch : Taroni_2019_Front.Pediatr_7_127 |
| PubMedID: 31024870 |
| Gene_locus related to this paper: human-PREPL |
| Title : PREPL deficiency: delineation of the phenotype and development of a functional blood assay - Regal_2018_Genet.Med_20_109 |
| Author(s) : Regal L , Martensson E , Maystadt I , Voermans N , Lederer D , Burlina A , Juan Fita MJ , Hoogeboom AJM , Olsson Engman M , Hollemans T , Schouten M , Meulemans S , Jonson T , Francois I , Gil Ortega D , Kamsteeg EJ , Creemers JWM |
| Ref : Genet Med , 20 :109 , 2018 |
| Abstract : |
| PubMedSearch : Regal_2018_Genet.Med_20_109 |
| PubMedID: 28726805 |
| Gene_locus related to this paper: human-PREPL |
| Title : PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome - Regal_2014_Neurology_82_1254 |
| Author(s) : Regal L , Shen XM , Selcen D , Verhille C , Meulemans S , Creemers JW , Engel AG |
| Ref : Neurology , 82 :1254 , 2014 |
| Abstract : |
| PubMedSearch : Regal_2014_Neurology_82_1254 |
| PubMedID: 24610330 |
| Gene_locus related to this paper: human-PREPL |
| Title : Two novel deletions in hypotonia-cystinuria syndrome - Regal_2012_Mol.Genet.Metab_107_614 |
| Author(s) : Regal L , Aydin HI , Dieltjens AM , Van Esch H , Francois I , Okur I , Zeybek C , Meulemans S , Van Mol C , Van Bruwaene L , Then SH , Jaeken J , Creemers J |
| Ref : Mol Genet Metab , 107 :614 , 2012 |
| Abstract : |
| PubMedSearch : Regal_2012_Mol.Genet.Metab_107_614 |
| PubMedID: 22796000 |
| Gene_locus related to this paper: human-PREPL |
| Title : PREPL, a prolyl endopeptidase-like enzyme by name only?--Lessons from patients - Boonen_2011_CNS.Neurol.Disord.Drug.Targets_10_355 |
| Author(s) : Boonen K , Regal L , Jaeken J , Creemers JW |
| Ref : CNS Neurol Disord Drug Targets , 10 :355 , 2011 |
| Abstract : |
| PubMedSearch : Boonen_2011_CNS.Neurol.Disord.Drug.Targets_10_355 |
| PubMedID: 21222627 |
| Gene_locus related to this paper: human-PREPL |
| Title : Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome - Chabrol_2008_J.Med.Genet_45_314 |
| Author(s) : Chabrol B , Martens K , Meulemans S , Cano A , Jaeken J , Matthijs G , Creemers JW |
| Ref : Journal of Medical Genetics , 45 :314 , 2008 |
| Abstract : |
| PubMedSearch : Chabrol_2008_J.Med.Genet_45_314 |
| PubMedID: 18234729 |
| Gene_locus related to this paper: human-PREPL |
| Title : Multi-system disorder syndromes associated with cystinuria type I - Martens_2008_Curr.Mol.Med_8_544 |
| Author(s) : Martens K , Jaeken J , Matthijs G , Creemers JW |
| Ref : Curr Mol Med , 8 :544 , 2008 |
| Abstract : |
| PubMedSearch : Martens_2008_Curr.Mol.Med_8_544 |
| PubMedID: 18781961 |
| Gene_locus related to this paper: human-PREPL |
| Title : Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome - Martens_2007_Eur.J.Hum.Genet_15_1029 |
| Author(s) : Martens K , Heulens I , Meulemans S , Zaffanello M , Tilstra D , Hes FJ , Rooman R , Francois I , de Zegher F , Jaeken J , Matthijs G , Creemers JW |
| Ref : Eur J Hum Genet , 15 :1029 , 2007 |
| Abstract : |
| PubMedSearch : Martens_2007_Eur.J.Hum.Genet_15_1029 |
| PubMedID: 17579669 |
| Gene_locus related to this paper: human-PREPL |
| Title : Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome - Jaeken_2006_Am.J.Hum.Genet_78_38 |
| Author(s) : Jaeken J , Martens K , Francois I , Eyskens F , Lecointre C , Derua R , Meulemans S , Slootstra JW , Waelkens E , de Zegher F , Creemers JW , Matthijs G |
| Ref : American Journal of Human Genetics , 78 :38 , 2006 |
| Abstract : |
| PubMedSearch : Jaeken_2006_Am.J.Hum.Genet_78_38 |
| PubMedID: 16385448 |
| Gene_locus related to this paper: human-PREPL |
| Title : The 2p21 deletion syndrome: characterization of the transcription content - Parvari_2005_Genomics_86_195 |
| Author(s) : Parvari R , Gonen Y , Alshafee I , Buriakovsky S , Regev K , Hershkovitz E |
| Ref : Genomics , 86 :195 , 2005 |
| Abstract : |
| PubMedSearch : Parvari_2005_Genomics_86_195 |
| PubMedID: 15913950 |
| Gene_locus related to this paper: human-PREPL |
| Title : A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease - Parvari_2001_Am.J.Hum.Genet_69_869 |
| Author(s) : Parvari R , Brodyansky I , Elpeleg O , Moses S , Landau D , Hershkovitz E |
| Ref : American Journal of Human Genetics , 69 :869 , 2001 |
| Abstract : |
| PubMedSearch : Parvari_2001_Am.J.Hum.Genet_69_869 |
| PubMedID: 11524703 |
| Gene_locus related to this paper: human-PREPL |