|Title:||Thirteen novel mutations in theNR0B1(DAX1) gene as cause of adrenal hypoplasia congenita||Authors:||Krone, Nils
Riepe, Felix Günther
Drop, Stenvert L.S.
Boronat Cortés, Mauro
de Luca, Filippo
Sippell, Wolfgang G.
|UNESCO Clasification:||32 Ciencias médicas||Keywords:||NR0B1
Adrenal hypoplasia congenital
Orphan nuclear receptor
|Issue Date:||2005||Journal:||Human Mutation||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.269lowbar;270dup, c.421lowbar;422dup, c.895lowbar;896dup, c.989dup, c.999lowbar;1000dup), and five deletions (c.483del, c.745lowbar;746del, c.734lowbar;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.||URI:||http://hdl.handle.net/10553/107132||ISSN:||1059-7794||DOI:||10.1002/humu.9331||Source:||Human Mutation [ISSN 1059-7794], v. 25 (5), p. 502-502|
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