ClinVar

Salvi et al. (2002) reported a patient who was diagnosed with adrenal failure (AHC; 300200) at 6 weeks of age, but who experienced transient recovery of adrenal function of several months' duration later in infancy. He subsequently failed to undergo puberty because of hypogonadotropic hypogonadism of pituitary origin, and he was also diagnosed with schizophrenia in early adulthood. Molecular genetic analyses revealed a complex rearrangement in DAX1, including a 2.2-kb deletion spanning the entire second exon and a small 27-bp insertion. The deletion extended from position 4561 through position 6801, completely eliminating exon 2 of the gene. The putative protein encoded by this mutated gene is 429 amino acids long. The initial 389 residues probably correspond to the wildtype DAX1 sequence, whereas the last 40 amino acids are presumably completely unrelated, being transcribed from the intronic sequence adjacent to exon 1. In vitro functional analyses confirmed the absence of repressor activity exerted by the mutant protein.