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

✍ Scribed by 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

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
95 KB
Volume
25
Category
Article
ISSN
1059-7794

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Nine novel mutations in NR0B1 (DAX1) cau
Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita
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X-linked adrenal hypoplasia congenita (AHC) is caused by mutations in the NR0B1 gene. This gene encodes an orphan member of the nuclear receptor superfamily, DAX1. Ongoing efforts in our laboratory have identified nine novel NR0B1 mutations in X-linked AHC patients (Y81X, 343delG, 457delT, 629delG,

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Adrenal hypoplasia congenita (AHC) causes primary adrenal insufficiency due to the failure of development of the adrenal cortex. Clinical and pedigree data indicate that the condition is genetically heterogeneous. The predominant adrenal hypoplasia congenita locus, however, is the NR0B1 gene, at Xp2

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## X-linked adrenal hypoplasia congenita (AHC) is characterized by primary adrenal insufficiency and is frequently associated with hypogonadotropic hypogonadism (HHG). Mutations of the DAX1 gene have been reported in patients with AHC and HHG. We found a novel DAX1 mutation in our patient. Sequenc