@article{FaragFroehlerOexleetal.2013,
  author    = {Farag, Heba Gamal and Froehler, Sebastian and Oexle, Konrad and Ravindran, Ethiraj and Schindler, Detlev and Staab, Timo and Huebner, Angela and Kraemer, Nadine and Chen, Wei and Kaindl, Angela M.},
  title     = {Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation},
  series = {Orphanet Journal of Rare Diseases},
  volume    = {8},
  journal   = {Orphanet Journal of Rare Diseases},
  number    = {178},
  issn      = {1750-1172},
  doi       = {10.1186/1750-1172-8-178},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-123505},
  year      = {2013},
  abstract  = {Background: Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disease with severe microcephaly at birth due to a pronounced reduction in brain volume and intellectual disability. Biallelic mutations in the WD repeat-containing protein 62 gene WDR62 are the genetic cause of MCPH2. However, the exact underlying pathomechanism of MCPH2 remains to be clarified. Methods/results: We characterized the clinical, radiological, and cellular features that add to the human MCPH2 phenotype. Exome sequencing followed by Sanger sequencing in a German family with two affected daughters with primary microcephaly revealed in the index patient the compound heterozygous mutations c. 1313G>A (p.R438H) / c.2864-2867delACAG (p.D955Afs*112) of WDR62, the second of which is novel. Radiological examination displayed small frontal lobes, corpus callosum hypoplasia, simplified hippocampal gyration, and cerebellar hypoplasia. We investigated the cellular phenotype in patient-derived lymphoblastoid cells and compared it with that of healthy female controls. WDR62 expression in the patient's immortalized lymphocytes was deranged, and mitotic spindle defects as well as abnormal centrosomal protein localization were apparent. Conclusion: We propose that a disruption of centrosome integrity and/or spindle organization may play an important role in the development of microcephaly in MCPH2.},
  language  = {en}
}
@article{vonBernuthRavindranDuetal.2014,
  author    = {von Bernuth, Horst and Ravindran, Ethiraj and Du, Hang and Froehler, Sebastian and Strehl, Karoline and Kraemer, Nadine and Issa-Jahns, Lina and Amulic, Borko and Ninnemann, Olaf and Xiao, Mei-Sheng and Eirich, Katharina and Koelsch, Uwe and Hauptmann, Kathrin and John, Rainer and Schindler, Detlev and Wahn, Volker and Chen, Wei and Kaindl, Angela M.},
  title     = {Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)},
  series = {Orphanet Journal of Rare Dieeases},
  volume    = {9},
  journal   = {Orphanet Journal of Rare Dieeases},
  doi       = {10.1186/s13023-014-0116-6},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-114859},
  pages     = {116},
  year      = {2014},
  abstract  = {The autosomal recessive immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) is characterized by immunodeficiency, developmental delay, and facial anomalies. ICF2, caused by biallelic ZBTB24 gene mutations, is acknowledged primarily as an isolated B-cell defect. Here, we extend the phenotype spectrum by describing, in particular, for the first time the development of a combined immune defect throughout the disease course as well as putative autoimmune phenomena such as granulomatous hepatitis and nephritis. We also demonstrate impaired cell-proliferation and increased cell death of immune and non-immune cells as well as data suggesting a chromosome separation defect in addition to the known chromosome condensation defect.},
  language  = {en}
}