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.
"In developing new genetic assays and evaluating the implications of newly identified sequence variations, Alamut helps me work faster and safer to ensure and document quality in assay design and interpretations."
HELGE ROOTWELT M.D. Ph.D.
Oslo University Hospital, Norway