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Fig. 1 | BMC Endocrine Disorders

Fig. 1

From: Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation

Fig. 1

Molecular diagnosis of DAX-1/NR0B1 p.Tyr378Cys mutation segregating with adrenal hypoplasia congenita and variable degree of hypogonadism and infertility. a Pedigree of p.Tyr378Cys kindred depicting family members with primary adrenal insufficiency, hypogonadism and infertility. b DAX-1 peptide domain representation, which the arrow indicates the p.Tyr378Cys mutation in ligand binding domain (LBD) where other hotspot mutations causing adrenal hypoplasia congenita have been described. c Representative chromatogram is shown together with DAX-1/NR0B1 gene reference sequence. The position of the mutation is indicated by a black arrow. d Peptide alignment among DAX-1/NR0B1 orthologues demonstrating its high conserved LBD region

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BMC Endocrine Disorders

ISSN: 1472-6823

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