Human Genetics

, Volume 111, Issue 4–5, pp 428–434

Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity

  • Emmanuelle Génin
  • Angela Huebner
  • Christine Jaillard
  • Armelle Faure
  • Georges Halaby
  • Nurçin Saka
  • Adrian J. Clark
  • Philippe Durand
  • Martine Bégeot
  • Danielle Naville
Original Investigation

DOI: 10.1007/s00439-002-0806-3

Cite this article as:
Génin, E., Huebner, A., Jaillard, C. et al. Hum Genet (2002) 111: 428. doi:10.1007/s00439-002-0806-3

Abstract.

In several cases of familial glucocorticoid deficiency (FGD), referred to as FGD type 1, mutations have been described in the coding exon of the adrenocorticotropin receptor (melanonocortin receptor type 2, MC2R) gene. However, for the majority of cases (FGD type 2), no mutations were found in this gene. In the more informative families, the involvement of the MC2R locus could be excluded by linkage or sequencing analysis and, as there was no obvious candidate gene, a genome linkage scan was performed. Fourteen families were studied in this report. Evidence of linkage was found with markers on chromosome 8q in three out of the 14 families (maximum heterogeneity LOD score of 2.81 at D8S1763). These three families were consanguineous and the gene could be located by homozygosity mapping between markers D8S285 and D8S1718 in a 8.8-cM region. No potential candidate genes were apparent in the region. Linkage to this region could be excluded in some families from our sample giving highly negative LOD scores with the markers of the region. This result suggests that at least one other gene, located on a different region, must be responsible for FGD in these families and provides new evidence of genetic heterogeneity of this disorder.

Copyright information

© Springer-Verlag 2002

Authors and Affiliations

  • Emmanuelle Génin
    • 1
  • Angela Huebner
    • 2
  • Christine Jaillard
    • 3
  • Armelle Faure
    • 4
  • Georges Halaby
    • 5
  • Nurçin Saka
    • 6
  • Adrian J. Clark
    • 7
  • Philippe Durand
    • 3
  • Martine Bégeot
    • 3
  • Danielle Naville
    • 3
  1. 1.INSERM U535, Le Kremlin-Bicêtre, France
  2. 2.Department of Paediatrics, Technical University Dresden, Dresden, Germany
  3. 3.INSERM U418-INRA UA953 and IFR 162, Hôpital Debrousse and Claude Bernard University, 29 Rue Soeur Bouvier, 69322, Lyon Cedex 05, France
  4. 4.Généthon, Evry, France
  5. 5.Hotel Dieu de France, Beirut, Lebanon
  6. 6.Department of Pediatric Endocrinology, Istanbul University, Istanbul, Turkey
  7. 7.Department of Endocrinology, St. Bartholomew's Hospital, London EC1A 7BE, UK

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