MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency
Fig 3
Phe1017Val-SAMD9 was characterized in vitro with inducible stable HEK293 cells.
A, Western blot analysis showed comparable protein expression levels between wildtype (WT)-SAMD9 and Phe1017Val-SAMD9. B, Intracellular localization of SAMD9 proteins, evaluated with the immunofluorescence technique, were similar between WT and the mutant. C, Induced expression of WT-SAMD9 resulted in mild growth restriction (left panel), whereas expression of Phe1017Val-SAMD9 caused profound growth restriction (right panel), which is a characteristic of MIRAGE syndrome-associated SAMD9 variants.