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      https://www.ias.ac.in/article/fulltext/jgen/095/04/0839-0845

    • Keywords

       

      Leri–Weill syndrome; SHOX gene; intragenic deletion; haploinsufficiency; ARMD

    • Abstract

       

      Haploinsufficiency of the short stature homeobox contaning SHOX gene has been shown to result in a spectrum of phenotypes ranging from Leri–Weill dyschondrosteosis (LWD) at the more severe end to SHOX-related short stature at the milder end of the spectrum. Most alterations are whole gene deletions, point mutations within the coding region, or microdeletions in its flanking sequences. Here, we present the clinical and molecular data as well as the potential molecular mechanism underlying a novel microdeletion, causing a variable SHOX-related haploinsufficiency disorder in a three-generation family. The phenotyperesembles that of LWD in females, in males, however, the phenotypic expression is milder. The 15523-bp SHOX intragenic deletion, encompassing exons 3–6, was initially detected by array-CGH, followed by MLPA analysis. Sequencing of thebreakpoints indicated an Alu recombination-mediated deletion (ARMD) as the potential causative mechanism.

    • Author Affiliations

       

      ANGELOS ALEXANDROU1 IOANNIS PAPAEVRIPIDOU1 KYRIAKOS TSANGARAS2 IOANNA ALEXANDROU1 MARIOS TRYFONIDIS3 VIOLETTA CHRISTOPHIDOU-ANASTASIADOU4 ELENI ZAMBA-PAPANICOLAOU5 GEORGE KOUMBARIS2 VASSOS NEOCLEOUS6 LEONIDAS A. PHYLACTOU6 NICOS SKORDIS7 GEORGE A. TANTELES4 CAROLINA SISMANI1

      1. Cytogenetics and Genomics Department,The Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus
      2. NIPD Genetics Ltd, Nicosia 2409, Cyprus
      3. Orthopedics Department, Nicosia General Hospital and Archbishop Makarios III Medical Centre, Nicosia 1066, Cyprus
      4. Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics and Archbishop Makarios III Medical Centre, Nicosia 1066, Cyprus
      5. Neurology Clinic D,The Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus
      6. Molecular Genetics, Function and Therapy Department, The Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus
      7. Division of Pediatric Endocrinology, Paedi Center for Specialized Pediatrics, Nicosia 2024, Cyprus
    • Dates

       
  • Journal of Genetics | News

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