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  • 1.
    Pihlstrom, Lasse
    et al.
    Oslo University Hospital, Norway; University of Oslo, Norway.
    Rengmark, Aina
    Oslo University Hospital, Norway.
    Anne Bjornara, Kari
    Drammen Hospital, Norway.
    Dizdar (Dizdar Segrell), Nil
    Linköping University, Department of Clinical and Experimental Medicine, Division of Neuro and Inflammation Science. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Local Health Care Services in Central Östergötland, Department of Neurology.
    Fardell, Camilla
    University of Gothenburg, Sweden.
    Forsgren, Lars
    Umeå University, Sweden.
    Holmberg, Bjorn
    University of Gothenburg, Sweden.
    Petter Larsen, Jan
    Stavanger University Hospital, Norway.
    Linder, Jan
    Umeå University, Sweden.
    Nissbrandt, Hans
    University of Gothenburg, Sweden.
    Tysnes, Ole-Bjorn
    Haukeland Hospital, Norway.
    Dietrichs, Espen
    Oslo University Hospital, Norway; University of Oslo, Norway.
    Toft, Mathias
    Oslo University Hospital, Norway.
    Fine mapping and resequencing of the PARK16 locus in Parkinsons disease2015In: Journal of Human Genetics, ISSN 1434-5161, E-ISSN 1435-232X, Vol. 60, no 7, p. 357-362Article in journal (Refereed)
    Abstract [en]

    The PARK16 locus, spanning five genes on chromosome 1, was among the first genetic regions to show genome-wide association in Parkinsons disease (PD). Subsequent investigations have found variability in PARK16 top-hits and association patterns across populations, and the implicated genes and mechanisms are currently unclear. In the present study, we aimed to explore the contribution of PARK16 variability to PD risk in a Scandinavian population. We genotyped 17 single-nucleotide polymorphisms in a case-control sample set of 2570 individuals from Norway and Sweden to fine map the locus. Targeted resequencing of the full coding regions of SLC45A3, NUCKS1, RAB7L1, SLC41A1 and PM20D1 was performed in DNA pools from a subset of 387 patient samples. We find evidence for an association with PD for rs1775143 as well as a haplotype located around the 5 region of RAB7L1, implicating variants which are not in high linkage disequilibrium with the strongest signal from a recent large meta-analysis in Caucasians. We also provide suggestive support for epistasis between RAB7L1 and LRRK2 as previously hypothesized by others. Comparing our results with previous work, allelic heterogeneity at PARK16 appears likely, and further studies are warranted to disentangle the complex patterns of association and pinpoint the functionally relevant variants.

  • 2.
    Yamamoto, Toshiyuki
    et al.
    Tokyo Womens Medical University, Japan .
    Wilsdon, Anna
    Nottingham City Hospital, UK.
    Joss, Shelagh
    Southern General Hospital, Glasgow, UK.
    Isidor, Bertrand
    Centre Hospital University of Nantes 7, France Institute Thorax, France .
    Erlandsson, Anna
    Sahlgrenska University Hospital, Gothenburg, Sweden.
    Suri, Mohnish
    Nottingham City Hospital, UK.
    Sangu, Noriko
    Tokyo Womens Medical University, Japan .
    Shimada, Shino
    Tokyo Womens Medical University, Japan .
    Shimojima, Keiko
    Tokyo Womens Medical University, Japan .
    Le Caignec, Cedric
    Centre Hospital University of Nantes 7, France Institute Thorax, France .
    Samuelsson, Lena
    Sahlgrenska University Hospital, Gothenburg, Sweden.
    Stefanova, Margarita
    Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Health Sciences. Östergötlands Läns Landsting, Center for Diagnostics, Department of Clinical Pathology and Clinical Genetics. Sahlgrenska University Hospital, Gothenburg, Sweden.
    An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities2014In: Journal of Human Genetics, ISSN 1434-5161, E-ISSN 1435-232X, Vol. 59, no 6, p. 300-306Article in journal (Refereed)
    Abstract [en]

    The majority of Xq22 duplications seen in patients with Pelizaeus-Merzbacher disease (PMD) include proteolipid protein 1 (PLP1), the gene responsible for PMD, and neighboring genes. Some cases result from larger duplications up to 7 Mb in size. In comparison, the deletions including PLP1 seen in PMD patients are small. In this study, we present the genetic and clinical information for five female patients with deletions involving the Xq22 region, and review the correlation between the genotype and phenotype. Three of the five patients show similar large deletions (greater than3 Mb) ranging from Xq22.1 to Xq22.3 and all manifest severe intellectual disability, hypotonia and behavioral abnormalities. The most striking similarity among them are the behavioral problems, including poor eye contact and sleep disturbance. We propose that this represents an emerging distinctive microdeletion syndrome encompassing PLP1 in female patients. The possible candidate region responsible for such distinctive features has been narrowed down to the neighboring region for PLP1, including the interleukin 1 receptor accessory protein-like 2 (IL1RAPL2) gene and the clustered brain expressed X-linked (BEX) genes. The gene(s) responsible for severe neurological features in the patients in this study would be located in the regions proximate to PLP1; thus, males with the deletions involving the gene(s) would be lethal, and finally, the sizes of the deletions in PMD patients would be smaller than those of the duplications.

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