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.
"Alamut is the best tool I have used for the annotation of DNA variants. It has a great user interface, combines data from multiple sources and allows for ease of variant interpretation by clinical geneticists."
JORDAN LERNER-ELLIS, Ph.D.
Mt. Sinai Hospital, Toronto