Alternative name(s) : Cystinuria with mitochondrial disease, Homozygous 2p16 deletion syndrome, formerly
Gene_locus : human-PREPL
Mutation : 10 mutations DelA_human-PREPL DelB_human-PREPL DelC_human-PREPL DelD_human-PREPL DelE_human-PREPL DelF_human-PREPL DelG_human-PREPL DelH_human-PREPL DelI_human-PREPL 2p21del_human-PREPL
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 : Taroni_2019_Front.Pediatr_7_127 |
| ESTHER : Taroni_2019_Front.Pediatr_7_127 |
| 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 : Regal_2018_Genet.Med_20_109 |
| ESTHER : Regal_2018_Genet.Med_20_109 |
| 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 : Regal_2014_Neurology_82_1254 |
| ESTHER : Regal_2014_Neurology_82_1254 |
| 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 : Regal_2012_Mol.Genet.Metab_107_614 |
| ESTHER : Regal_2012_Mol.Genet.Metab_107_614 |
| 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 : Boonen_2011_CNS.Neurol.Disord.Drug.Targets_10_355 |
| ESTHER : Boonen_2011_CNS.Neurol.Disord.Drug.Targets_10_355 |
| 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 : Chabrol_2008_J.Med.Genet_45_314 |
| ESTHER : Chabrol_2008_J.Med.Genet_45_314 |
| 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 : Martens_2008_Curr.Mol.Med_8_544 |
| ESTHER : Martens_2008_Curr.Mol.Med_8_544 |
| 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 : Martens_2007_Eur.J.Hum.Genet_15_1029 |
| ESTHER : Martens_2007_Eur.J.Hum.Genet_15_1029 |
| 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 : Jaeken_2006_Am.J.Hum.Genet_78_38 |
| ESTHER : Jaeken_2006_Am.J.Hum.Genet_78_38 |
| 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 : Parvari_2005_Genomics_86_195 |
| ESTHER : Parvari_2005_Genomics_86_195 |
| 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 : Parvari_2001_Am.J.Hum.Genet_69_869 |
| ESTHER : Parvari_2001_Am.J.Hum.Genet_69_869 |
| PubMedSearch : Parvari_2001_Am.J.Hum.Genet_69_869 |
| PubMedID: 11524703 |
| Gene_locus related to this paper: human-PREPL |