Paternal uniparental disomy of chromosome 15 in a child with angelman syndrome

Authors

  • Dr Robert D. Nicholls DPhil,

    Corresponding author
    1. Department of Neuroscience, University of Florida Brain Institute, and Division of Genetics, Department of Pediatrics and Center for Mammalian Genetics, University of Florida College of Medicine, Gainesville, FL
    • Department of Neuroscience, Box 100244 JHMHC, University of Florida College of Medicine, Gainesville, FL 32610
    Search for more papers by this author
  • G. Shashidhar Pai MD,

    1. Department of Pediatrics, Children's Hospital, Medical University of South Carolina, Charleston, SC
    2. Department of Pathology and Laboratory Medicine, Children's Hospital, Medical University of South Carolina, Charleston, SC
    Search for more papers by this author
  • Wayne Gottlieb MSc,

    1. Department of Neuroscience, University of Florida Brain Institute, and Division of Genetics, Department of Pediatrics and Center for Mammalian Genetics, University of Florida College of Medicine, Gainesville, FL
    Search for more papers by this author
  • Eduardo S. Cantú PhD

    1. Department of Pathology and Laboratory Medicine, Children's Hospital, Medical University of South Carolina, Charleston, SC
    Search for more papers by this author

Abstract

Angelman and Prader-Willi syndromes are clinically distinct neurobehavioral disorders most commonly resulting from large deletions of chromosome 15q11-q13. The deletions arise differentially during maternal or paternal gametogenesis, respectively. A subgroup of patients with either syndrome have no apparent deletion, and because many such patients with Prader-Willi syndrome display inheritance of two copies of chromosome 15 from the mother only (uniparental disomy; UPD), we suggested that paternal UPD might be found in patients with Angelman syndrome. We report here clinical, cytogenetic, and molecular evidence on the 1 patient with paternal UPD for chromosome 15 who was found in our study population. This represents, to our knowledge, the first patient with paternal UPD to be studied with DNA probes from the chromosome 15q11-q13 critical region. In contrast to our findings for patients with Prader-Willi syndrome, in which maternal UPD was common, our data demonstrate that paternal UPD is infrequent in patients with Angelman syndrome.

Ancillary