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A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism

โœ Scribed by Antonio Balsamo; Alessandra Antelli; Lilia Baldazzi; Federico Baronio; Dina Lazareva; Alessandra Cassio; Alessandro Cicognani


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
278 KB
Volume
135A
Category
Article
ISSN
1552-4825

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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

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We identified a DAX1 missense mutation, a substitution of arginine for leucine at codon 466 (Leu466Arg), in an infant with X-linked congenital adrenal hypoplasia (AHC). A heterozygous substitution, Leu466Arg, was also identified in his mother and sister. Since leucine at position 466 is well conserv