Tingting Yu and colleagues report a study of a Chinese pedigree with X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HHG). They identified a novel small indel variant, c.195_207delinsTG, in the NR0B1 gene and revealed that the c.195_207delinsTG mutation lead to various truncated DAX1 proteins. Their findings suggest that the mutation of NR0B1 in X-linked AHC with HHG enhanced the function of DAX1 to repress SF-1 activation, while DAX1 is expected to have additional roles in the pathological mechanism.
Yu, Tingting et al. Molecular Medicine Reports.
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KATE THOMSON, FRCPath
Cardiac Service Oxford University Hospitals