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@ARTICLE{Hengel:153290,
      author       = {Hengel, Holger and Buchert, Rebecca and Sturm, Marc and
                      Haack, Tobias B and Schelling, Yvonne and Mahajnah, Muhammad
                      and Sharkia, Rajech and Azem, Abdussalam and Balousha,
                      Ghassan and Ghanem, Zaid and Falana, Mohammed and Balousha,
                      Osama and Ayesh, Suhail and Keimer, Reinhard and
                      Deigendesch, Werner and Zaidan, Jimmy and Marzouqa, Hiyam
                      and Bauer, Peter and Schöls, Ludger},
      title        = {{F}irst-line exome sequencing in {P}alestinian and
                      {I}sraeli {A}rabs with neurological disorders is efficient
                      and facilitates disease gene discovery.},
      journal      = {European journal of human genetics},
      volume       = {28},
      number       = {8},
      issn         = {1476-5438},
      address      = {Basingstoke},
      publisher    = {Stockton Press},
      reportid     = {DZNE-2020-01287},
      pages        = {1034 - 1043},
      year         = {2020},
      abstract     = {A 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.},
      keywords     = {Arabs: genetics / Female / Gene Frequency / Genetic Loci /
                      Genetic Predisposition to Disease / Humans / Male / Nervous
                      System Diseases: genetics / Pedigree / Exome Sequencing:
                      standards / Exome Sequencing: statistics $\&$ numerical
                      data},
      cin          = {AG Gasser 1},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:32214227},
      pmc          = {pmc:PMC7382450},
      doi          = {10.1038/s41431-020-0609-9},
      url          = {https://pub.dzne.de/record/153290},
}