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SOX3 and Infundibular Hypoplasia 

SOX3 and Infundibular Hypoplasia
SOX3 and Infundibular Hypoplasia

Kyriaki S. Alatzoglou

, Daniel Kelberman

, and Mehul T. Dattani

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date: 24 February 2021

Duplications of Xq26–27 encompassing SOX3 [sex-determining region Y (SRY)-box 3] have previously been associated with variable hypopituitarism and learning difficulties. Loss-of-function polyalanine tract expansion mutations within SOX3 have been associated with essentially similar phenotypes of infundibular hypoplasia and midline defects of the central nervous system (CNS), with anterior pituitary hypoplasia and varying degrees of hypopituitarism with or without mental retardation or learning difficulties. More recently polyalanine tract deletions have also been shown to be associated with hypopituitarism and have an effect similar to duplicated dosage of the protein. Mice with targeted disruption of Sox3 exhibit abnormal development of the infundibulum and hypothalamus, which subsequently disrupts the necessary inductive signals for the correct development of the anterior pituitary. Correct gene dosage of SOX3 is therefore critical for normal development of the diencephalon and infundibulum and, consequently, the anterior pituitary in humans and mice, as well as for the development of other dorsal midline structures in the central nervous system. The contribution of SOX3 in the etiology of X-linked hypopituitarism needs further investigation.

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