Addison's Disease Research Today is a free monthly online journal that collates and summarizes the latest research about Addison's Disease, including details on chronic adrenal insufficiency, treatment, causes, medication.

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

Krone N, Riepe FG, Dörr HG, Morlot M, Rudorff KH, Drop SL, Weigel J, Pura M, Kreze A, Boronat M, de Luca F, Tiulpakov A, Partsch CJ, Peter M, Sippell WG

Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital Schleswig-Holstein (Campus Kiel), Kiel, Germany. krone@pediatrics.uni-kiel.de

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.

Published 26 April 2005 in Hum Mutat, 25(5): 502-3.
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