Human pathology

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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