Human Genetics

, Volume 113, Issue 5, pp 447–451

Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12)

  • V. Reid Sutton
  • William H. McAlister
  • Terry K. Bertin
  • Sara Kaffe
  • Jin-Chen C. Wang
  • Shoji Yano
  • Lisa G. Shaffer
  • Brendan Lee
  • Charles J. Epstein
  • Angela J. Villar
Original Investigation

Abstract

Human paternal uniparental disomy for chromosome 14 (upd(14)pat) presents with skeletal abnormalities, joint contractures, dysmorphic facial features and developmental delay/mental retardation. Distal human chromosome 14 (HSA14) is homologous to distal mouse chromosome 12 (MMU12) and both regions have been shown to contain imprinted genes. In humans, consistent radiographic findings include a narrow, bell-shaped thorax with caudal bowing of the anterior ribs, cranial bowing of the posterior ribs and flaring of the iliac wings without shortening or dysplasia of the long bones. Mice with upd(12)pat have thin ribs with delayed ossification of the sternum, skull and feet. In both mice and humans, the axial skeleton is predominantly affected. We hypothesize that there is an imprinted gene or genes on HSA14/MMU12 that specifically affects rib/thorax development and the maturation of ossification centers in the sternum, feet and skull with little effect on long bone development.

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Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  • V. Reid Sutton
    • 1
  • William H. McAlister
    • 2
  • Terry K. Bertin
    • 1
    • 8
  • Sara Kaffe
    • 3
    • 4
  • Jin-Chen C. Wang
    • 5
    • 10
  • Shoji Yano
    • 6
  • Lisa G. Shaffer
    • 1
    • 7
  • Brendan Lee
    • 1
    • 8
  • Charles J. Epstein
    • 9
  • Angela J. Villar
    • 9
  1. 1.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas, USA
  2. 2.Departments of Pediatrics and RadiologyWashington University School of MedicineSt. LouisMissouri, USA
  3. 3.Department of Human GeneticsMount Sinai School of MedicineNew YorkUSA
  4. 4.Department of PediatricsElmhurst Hospital CenterNew YorkUSA
  5. 5.Harbor-UCLA Medical CenterTorranceCalifornia, USA
  6. 6.Department of PediatricsChildren's Hospital Los AngelesLos AngelesCalifornia, USA
  7. 7.School of Molecular BiosciencesWashington State UniversitySpokaneWashington, USA
  8. 8.Howard Hughes Medical InstituteBaylor College of MedicineHoustonTexas, USA
  9. 9.Department of PediatricsUniversity of CaliforniaSan FranciscoCalifornia, USA
  10. 10.Alfigen The Genetics InstitutePasadenaCalifornia, USA

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