000153290 001__ 153290
000153290 005__ 20240321221039.0
000153290 0247_ $$2doi$$a10.1038/s41431-020-0609-9
000153290 0247_ $$2pmid$$apmid:32214227
000153290 0247_ $$2pmc$$apmc:PMC7382450
000153290 0247_ $$2ISSN$$a1018-4813
000153290 0247_ $$2ISSN$$a1476-5438
000153290 0247_ $$2altmetric$$aaltmetric:78511899
000153290 037__ $$aDZNE-2020-01287
000153290 041__ $$aEnglish
000153290 082__ $$a610
000153290 1001_ $$0P:(DE-2719)2811940$$aHengel, Holger$$b0$$eFirst author$$udzne
000153290 245__ $$aFirst-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
000153290 260__ $$aBasingstoke$$bStockton Press$$c2020
000153290 3367_ $$2DRIVER$$aarticle
000153290 3367_ $$2DataCite$$aOutput Types/Journal article
000153290 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1685020376_32154
000153290 3367_ $$2BibTeX$$aARTICLE
000153290 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000153290 3367_ $$00$$2EndNote$$aJournal Article
000153290 520__ $$aA high rate of consanguinity leads to a high prevalence of autosomal recessive disorders in inbred populations. One example of inbred populations is the Arab communities in Israel and the Palestinian Authority. In the Palestinian Authority in particular, due to limited access to specialized medical care, most patients do not receive a genetic diagnosis and can therefore neither receive genetic counseling nor possibly specific treatment. We used whole-exome sequencing as a first-line diagnostic tool in 83 Palestinian and Israeli Arab families with suspected neurogenetic disorders and were able to establish a probable genetic diagnosis in 51% of the families (42 families). Pathogenic, likely pathogenic or highly suggestive candidate variants were found in the following genes extending and refining the mutational and phenotypic spectrum of these rare disorders: ACO2, ADAT3, ALS2, AMPD2, APTX, B4GALNT1, CAPN1, CLCN1, CNTNAP1, DNAJC6, GAMT, GPT2, KCNQ2, KIF11, LCA5, MCOLN1, MECP2, MFN2, MTMR2, NT5C2, NTRK1, PEX1, POLR3A, PRICKLE1, PRKN, PRX, SCAPER, SEPSECS, SGCG, SLC25A15, SPG11, SYNJ1, TMCO1, and TSEN54. Further, this cohort has proven to be ideal for prioritization of new disease genes. Two separately published candidate genes (WWOX and PAX7) were identified in this study. Analyzing the runs of homozygosity (ROHs) derived from the Exome sequencing data as a marker for the rate of inbreeding, revealed significantly longer ROHs in the included families compared with a German control cohort. The total length of ROHs correlated with the detection rate of recessive disease-causing variants. Identification of the disease-causing gene led to new therapeutic options in four families.
000153290 536__ $$0G:(DE-HGF)POF3-345$$a345 - Population Studies and Genetics (POF3-345)$$cPOF3-345$$fPOF III$$x0
000153290 588__ $$aDataset connected to CrossRef, PubMed,
000153290 650_2 $$2MeSH$$aArabs: genetics
000153290 650_2 $$2MeSH$$aFemale
000153290 650_2 $$2MeSH$$aGene Frequency
000153290 650_2 $$2MeSH$$aGenetic Loci
000153290 650_2 $$2MeSH$$aGenetic Predisposition to Disease
000153290 650_2 $$2MeSH$$aHumans
000153290 650_2 $$2MeSH$$aMale
000153290 650_2 $$2MeSH$$aNervous System Diseases: genetics
000153290 650_2 $$2MeSH$$aPedigree
000153290 650_2 $$2MeSH$$aExome Sequencing: standards
000153290 650_2 $$2MeSH$$aExome Sequencing: statistics & numerical data
000153290 7001_ $$0P:(DE-HGF)0$$aBuchert, Rebecca$$b1
000153290 7001_ $$aSturm, Marc$$b2
000153290 7001_ $$aHaack, Tobias B$$b3
000153290 7001_ $$0P:(DE-HGF)0$$aSchelling, Yvonne$$b4
000153290 7001_ $$aMahajnah, Muhammad$$b5
000153290 7001_ $$0P:(DE-HGF)0$$aSharkia, Rajech$$b6
000153290 7001_ $$aAzem, Abdussalam$$b7
000153290 7001_ $$aBalousha, Ghassan$$b8
000153290 7001_ $$aGhanem, Zaid$$b9
000153290 7001_ $$0P:(DE-HGF)0$$aFalana, Mohammed$$b10
000153290 7001_ $$aBalousha, Osama$$b11
000153290 7001_ $$aAyesh, Suhail$$b12
000153290 7001_ $$aKeimer, Reinhard$$b13
000153290 7001_ $$aDeigendesch, Werner$$b14
000153290 7001_ $$aZaidan, Jimmy$$b15
000153290 7001_ $$aMarzouqa, Hiyam$$b16
000153290 7001_ $$0P:(DE-HGF)0$$aBauer, Peter$$b17
000153290 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b18$$eLast author$$udzne
000153290 773__ $$0PERI:(DE-600)2005160-8$$a10.1038/s41431-020-0609-9$$gVol. 28, no. 8, p. 1034 - 1043$$n8$$p1034 - 1043$$tEuropean journal of human genetics$$v28$$x1476-5438$$y2020
000153290 8564_ $$uhttps://pub.dzne.de/record/153290/files/DZNE-2020-01287.pdf$$yOpenAccess
000153290 8564_ $$uhttps://pub.dzne.de/record/153290/files/DZNE-2020-01287.pdf?subformat=pdfa$$xpdfa$$yOpenAccess
000153290 909CO $$ooai:pub.dzne.de:153290$$pdnbdelivery$$pdriver$$pVDB$$popen_access$$popenaire
000153290 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2811940$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b0$$kDZNE
000153290 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2810795$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b18$$kDZNE
000153290 9131_ $$0G:(DE-HGF)POF3-345$$1G:(DE-HGF)POF3-340$$2G:(DE-HGF)POF3-300$$3G:(DE-HGF)POF3$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lErkrankungen des Nervensystems$$vPopulation Studies and Genetics$$x0
000153290 9141_ $$y2020
000153290 915__ $$0LIC:(DE-HGF)CCBY4$$2HGFVOC$$aCreative Commons Attribution CC BY 4.0
000153290 915__ $$0StatID:(DE-HGF)0160$$2StatID$$aDBCoverage$$bEssential Science Indicators$$d2020-09-12
000153290 915__ $$0StatID:(DE-HGF)1190$$2StatID$$aDBCoverage$$bBiological Abstracts$$d2020-09-12
000153290 915__ $$0StatID:(DE-HGF)0113$$2StatID$$aWoS$$bScience Citation Index Expanded$$d2020-09-12
000153290 915__ $$0StatID:(DE-HGF)0510$$2StatID$$aOpenAccess
000153290 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2022-11-11
000153290 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2022-11-11
000153290 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2022-11-11
000153290 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews$$d2022-11-11
000153290 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences$$d2022-11-11
000153290 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bEUR J HUM GENET : 2021$$d2022-11-11
000153290 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2022-11-11
000153290 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search$$d2022-11-11
000153290 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC$$d2022-11-11
000153290 915__ $$0StatID:(DE-HGF)9905$$2StatID$$aIF >= 5$$bEUR J HUM GENET : 2021$$d2022-11-11
000153290 9201_ $$0I:(DE-2719)1210000$$kAG Gasser 1$$lParkinson Genetics$$x0
000153290 980__ $$ajournal
000153290 980__ $$aVDB
000153290 980__ $$aUNRESTRICTED
000153290 980__ $$aI:(DE-2719)1210000
000153290 9801_ $$aFullTexts