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Sporadic Heterozygous Frameshift Mutation of<i>HESX1</i>Causing Pituitary and Optic Nerve Hypoplasia and Combined Pituitary Hormone Deficiency in a Japanese Patient

1 Jan 2003

Abstract excerpt

HESX1/Hesx1 is a member of the paired-like class of homeobox genes and is essential for pituitary and forebrain development. Mice with a targeted homozygous deletion of the Hesx1 show severe central nervous system defects, absence of optic vesicles, and a very small anterior pituitary gland. This phenotype is similar to the abnormalities observed in the human disorder called septo-optic dysplasia, a syndromic...

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Identifiers

PMID: 12519827
DOI: 10.1210/jc.2002-020818

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