SOX3
MIM.313430 Xq26.3
Definition: SOX3 is a member of the SOXs genes family. Locus: Xq26-q27.
Pathology
polyalanine repeat expansion mutations in the X-linked mental retardation with growth hormone deficiency (12428212)
duplications of Xq26-27 have been implicated in the etiology of X-linked hypopituitarism associated with mental retardation (MR)
expansion of a polyalanine tract (by 11 alanines) in the SOX3 has been reported in patients with growth hormone deficiency and variable learning difficulties
submicroscopic duplication of Xq27.1 cause variable hypopituitarism, callosal abnormalities, anterior pituitary hypoplasia (APH), an ectopic posterior pituitary (EPP), and an absent infundibulum (15800844)
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism
See also
transcription factors
polyalanine repeat expansions