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A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita

Gerster, Karine ; Katschnig, Claudia ; Wyss, Sascha ; Kolly, Anne ; Sproll, Patrick ; Biason-Lauber, Anna ; Konrad, Daniel

In: Journal of Pediatric Endocrinology and Metabolism, 2017, vol. 30, no. 12, p. 1321-1325

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    Titre
    • A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita
    Auteur
    • Gerster, Karine. Department of Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland
    • Katschnig, Claudia. Department of Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland
    • Wyss, Sascha. Department of Medicine, Division of Endocrinology, University of Fribourg, Fribourg, Switzerland
    • Kolly, Anne. Department of Medicine, Division of Endocrinology, University of Fribourg, Fribourg, Switzerland
    • Sproll, Patrick. Department of Medicine, Division of Endocrinology, University of Fribourg, Fribourg, Switzerland
    • Biason-Lauber, Anna. Department of Medicine, Division of Endocrinology, University of Fribourg, Chemin du Musée 5, 1700 Fribourg, Switzerland, Phone: +41 26 300 8534
    • Konrad, Daniel. Department of Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland
    Type de document
    • Postprint
    Langue
    • Anglais
    Publié dans
    • Journal of Pediatric Endocrinology and Metabolism, 2017, vol. 30, no. 12, p. 1321-1325. De Gruyter
    Autre version électronique
    Identifiant OAI-PMH
    • oai:doc.rero.ch:332190
    Summary
    AbstractBackground: X-linked adrenal hypoplasia congenita (AHC) is caused by mutations in DAX-1 (NR0B1) playing a key role in adrenal and reproductive development. Case presentation: Herein we report a 2.5-year-old boy who presented with acute adrenal failure. Family history revealed unexplained death in three brothers of the patient's mother during infancy. Molecular analysis of the DAX-1 gene revealed the presence of a novel hemizygous mutation, c.870C>A in exon 1, leading to the formation of a premature stop codon. The same mutation was identified in the patient's mother. The truncated mutant protein is most likely misfolded, sequestered in the endoplasmic reticulum and therefore cannot bind to and activate its target DNA sequences in the nucleus. Conclusions: DAX-1 mutation must be considered when diagnosis of primary adrenocortical insufficiency is made, especially if there is a history of unexplained death of maternal male relatives.