{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["8"],"submitter":["Bouhouche A"],"pubmed_abstract":["During the last two decades, 15 different genes have been reported to be responsible for the monogenic form of Parkinson's disease (PD), representing a worldwide frequency of 5-10%. Among them, 10 genes have been associated with autosomal recessive PD, with <i>PRKN</i> and <i>PINK1</i> being the most frequent. In a cohort of 145 unrelated Moroccan PD patients enrolled since 2013, 19 patients were born from a consanguineous marriage, of which 15 were isolated cases and 4 familial. One patient was homozygous for the common <i>LRRK2</i> G2019S mutation and the 18 others who did not carry this mutation were screened for exon rearrangements in the <i>PRKN</i> gene using Affymetrix Cytoscan HD microarray. Two patients were determined homozygous for <i>PRKN</i> exon-deletions, while another patie"],"journal":["Frontiers in neurology"],"pagination":["567"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5674924"],"repository":["biostudies-literature"],"pubmed_title":["Mutation Analysis of Consanguineous Moroccan Patients with Parkinson's Disease Combining Microarray and Gene Panel."],"pmcid":["PMC5674924"],"pubmed_authors":["Regragui W","Souirti Z","Rahmani M","Brice A","Bouslam N","Ben El Haj R","Lesage S","Tesson C","Tibar H","Yahyaoui M","Bouhouche A","Drouet V","Benomar A"],"additional_accession":[]},"is_claimable":false,"name":"Mutation Analysis of Consanguineous Moroccan Patients with Parkinson's Disease Combining Microarray and Gene Panel.","description":"During the last two decades, 15 different genes have been reported to be responsible for the monogenic form of Parkinson's disease (PD), representing a worldwide frequency of 5-10%. Among them, 10 genes have been associated with autosomal recessive PD, with <i>PRKN</i> and <i>PINK1</i> being the most frequent. In a cohort of 145 unrelated Moroccan PD patients enrolled since 2013, 19 patients were born from a consanguineous marriage, of which 15 were isolated cases and 4 familial. One patient was homozygous for the common <i>LRRK2</i> G2019S mutation and the 18 others who did not carry this mutation were screened for exon rearrangements in the <i>PRKN</i> gene using Affymetrix Cytoscan HD microarray. Two patients were determined homozygous for <i>PRKN</i> exon-deletions, while another patie","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017","modification":"2026-04-07T14:36:30.544Z","creation":"2019-03-27T03:01:05Z"},"accession":"S-EPMC5674924","cross_references":{"pubmed":["29163333"],"doi":["10.3389/fneur.2017.00567"]}}