Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita

Nils Krone, Felix Günther Riepe, Helmuth-Günther Dörr, Michel Morlot, Karl-Heinz Rudorff, Stenvert L S Drop, Johannes Weigel, Mikulas Pura, Alexander Kreze, Mauro Boronat, Filippo de Luca, Anatoly Tiulpakov, Carl-Joachim Partsch, Michael Peter, Wolfgang G Sippell

    Research output: Contribution to journalArticlepeer-review

    19 Citations (Scopus)

    Abstract

    X-linked adrenal hypoplasia congenita (AHC) is a rare developmental disorder associated with primary adrenal insufficiency and combined primary and secondary male hypogonadism. It is caused by deletions or mutations of the NR0B1 (DAX1) gene encoding DAX1, an atypical orphan member of the nuclear receptor superfamily. The continuous molecular genetic analysis of male patients with primary adrenal insufficiency revealed 13 novel mutations within the coding region of the NR0B1 gene which are predicted to inactivate the DAX1 function. These were three nonsense mutations (c.312C>A, p.Cys104X, c.670C>T, p.Gln224X; and c.873G>A, p.Trp291X), five duplications (c.269_270dup, c.421_422dup, c.895_896dup, c.989dup, c.999_1000dup), and five deletions (c.483del, c.745_746del, c.734_740del, c.1092del, and c.1346del). All of the mutations resulted in a premature stop codon destroying the ligand binding domain of the predictive DAX1 protein.
    Original languageEnglish
    Pages (from-to)502-3
    Number of pages2
    JournalHuman Mutation
    Volume25
    Issue number5
    DOIs
    Publication statusPublished - 2005

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