Human Genetics

, Volume 99, Issue 1, pp 83–87 | Cite as

X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N440I) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis

  • M. Schwartz
  • Susanne Blichfeldt
  • Jørn Müller
Original investigation

Abstract

X-linked congenital adrenal hypoplasia (AHC) is a developmental disorder of the human adrenal gland that results in profound hormonal deficiencies, which are lethal if untreated. Hypogonadotropic hypogonadism (HHG) is frequently associated with this disorder. The gene (DAX-1) responsible for the disease has recently been isolated. It encodes a protein with large similarity to members of the nuclear hormone receptor superfamily. Several different mutations in this gene have been found in patients suffering from AHC. We have identified a missense mutation (N440I) in three patients with AHC and HHG, all belonging to a large Greenlandic family. A total of 42 individuals has been tested for this mutation. We have diagnosed 10 women as carriers, and have excluded 22 women with a 25–50% risk from being carriers, emphasizing the rapid impact of molecular genetic techniques.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Copyright information

© Springer-Verlag Berlin Heidelberg 1996

Authors and Affiliations

  • M. Schwartz
    • 1
  • Susanne Blichfeldt
    • 2
  • Jørn Müller
    • 2
  1. 1.Department of Clinical Genetics, Juliane Marie Center, University Hospital, Rigshospitalet 4062, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Tel.: +45 35 45 48 65; Fax: +45 35 45 40 72DK
  2. 2.Department of Growth and Reproduction, Juliane Marie Center, University Hospital, Rigshospitalet, Copenhagen, DenmarkDK

Personalised recommendations