Human Genetics

, Volume 121, Issue 2, pp 269–273 | Cite as

A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33–34

  • B. Isidor
  • N. Dagoneau
  • C. Huber
  • D. Genevieve
  • B. Bader-Meunier
  • S. Blanche
  • C. Picard
  • M. C. De Vernejoul
  • A. Munnich
  • M. Le Merrer
  • V. Cormier-Daire
Original Investigation

Abstract

Ghosal hemato-diaphyseal dysplasia is a rare autosomal recessive disorder characterized by a progressive sclerosing diaphyseal dysplasia and refractory anemia. The pathogenesis and genetic bases of this syndrome remain hitherto unknown. We have performed a genome wide search in two inbred families originating from Algeria and Tunisia. Here, we report on the mapping of a disease gene to chromosome 7q33–34 (Zmax = 4.21 at θ = 0 at locus D7S2513) in a 3.4 Mb defined by loci D7S2560 and AC091742. Ongoing studies will hopefully lead to identification of the disease-causing gene.

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Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • B. Isidor
    • 1
  • N. Dagoneau
    • 1
  • C. Huber
    • 1
  • D. Genevieve
    • 1
  • B. Bader-Meunier
    • 2
  • S. Blanche
    • 3
  • C. Picard
    • 4
  • M. C. De Vernejoul
    • 5
  • A. Munnich
    • 1
  • M. Le Merrer
    • 1
  • V. Cormier-Daire
    • 1
  1. 1.Department of Medical Genetics and INSERM U781Necker Enfants Malades HospitalParisFrance
  2. 2.Paediatric Haematology UnitRobert Debre HospitalParisFrance
  3. 3.Paediatric Haematology–Immunology UnitNecker Enfants Malades HospitalParisFrance
  4. 4.Immunodeficiency Study CenterNecker Enfants Malades HospitalParisFrance
  5. 5.Rheumatology DepartmentLariboisiere HospitalParisFrance

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