• Fulltext

       

        Click here to view fulltext PDF


      Permanent link:
      https://www.ias.ac.in/article/fulltext/jgen/095/03/0621-0624

    • Keywords

       

      imprinting; obesity; chromosomal deletion; alternative transcripts.

    • Abstract

       

      Prader–Willi syndrome is a rare syndrome characterized by hypotonia, developmental delay and excessive appetite. This syndrome is caused by the loss of function of paternally-expressed genes located in an imprinting centre in 15q11-q13. Here, we report the case of a patient who was referred to us with Prader–Willi syndrome-like symptoms including obesity and developmental delay. Examination of this patient revealed that he was a carrier of a paternally inherited deletion that affected the U1B and U1B* upstream exons of the SNURF–SNRNP gene within the 15q11-q13 imprinted region. Mutations localized within this genomic region have not been previously reported in Prader–Willi syndrome patients. It is possible that disruption of upstream exons of SNURF–SNRNP could contribute to Prader–Willi phenotype by disrupting brain-specific alternative transcripts, although, case reports from further patients with a comparable phenotype are required

    • Author Affiliations

       

      COSTAS KOUFARIS1 ANGELOS ALEXANDROU1 IOANNIS PAPAEVRIPIDOU1 IOANNA ALEXANDROU1 VIOLETTA CHRISTOPHIDOU- ANASTASIADOU2 CAROLINA SISMANI1

      1. Department of Cytogenetics and Genomics,The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, Cyprus
      2. Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, Cyprus
    • Dates

       
  • Journal of Genetics | News

    • Editorial Note on Continuous Article Publication

      Posted on July 25, 2019

      Click here for Editorial Note on CAP Mode

© 2021-2022 Indian Academy of Sciences, Bengaluru.