Perlman Syndrome: Overgrowth, Wilms Tumor Predisposition and DIS3L2

Authors

  • MARK R. MORRIS,

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    • Mark R. Morris, Ph.D., is a Senior Lecturer in Molecular Biosciences at the University of Wolverhampton and Honorary Lecturer in Molecular Genetics at the University of Birmingham, UK. His research is focused on the molecular biology and genetics of renal and other cancers.
  • DEWI ASTUTI,

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    • Dewi Astuti, Ph.D., is a Research Fellow at the Centre for Rare Diseases and Personalized Medicine, University of Birmingham, UK.
  • EAMONN R. MAHER

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    • Eamonn R. Maher, M.D., FRCP, FMedSci, is Professor of Medical Genetics and Director of the Centre for Rare Diseases and Personalized Medicine, University of Birmingham and Consultant Physician in Clinical Genetics at West Midlands Regional Genetics Service, UK.

Correspondence to: Professor Eamonn R. Maher, Centre for Rare Diseases and Personalized Medicine, Institute of Biomedical Research (West), The Medical School, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK. E-mail: e.r.maher@bham.ac.uk

Abstract

Perlman syndrome is a rare autosomal recessively inherited congenital overgrowth syndrome characterized by polyhydramnios, macrosomia, characteristic facial dysmorphology, renal dysplasia and nephroblastomatosis and multiple congenital anomalies. Perlman syndrome is associated with high neonatal mortality and, survivors have developmental delay and a high risk of Wilms tumor. Recently a Perlman syndrome locus was mapped to chromosome 2q37 and homozygous or compound heterozygous mutations were characterized in DIS3L2. The DIS3L2 gene product has ribonuclease activity and homology to the DIS3 component of the RNA exosome. It has been postulated that the clinical features of Perlman syndrome result from disordered RNA metabolism and, though the precise targets of DIS3L2 have yet to be characterized, in cellular models DIS3L2 knockdown is associated with abnormalities of cell growth and division. © 2013 Wiley Periodicals, Inc.

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