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At this stage, Hesx1 is also expressed in the thickened layer of oral ectoderm which will give rise to the Rathke pouch, the primordium of the anterior pituitary.

Ultimately, transcripts become restricted to the Rathke pouch.

The patient's parents were related, and an unaffected sister was heterozygous for the mutation.

Subsequently, Hesx1 is expressed at the anterior extreme of the rostral neural folds, finally resolving to the ventral diencephalon at 9.0 days postcoitum.The patient's unaffected mother and unaffected sib also carried the mutation, suggesting incomplete penetrance; the mutation was not found in 100 control chromosomes. (2003) identified a homozygous 77T-C transition in the HESX1 gene, resulting in an ile26-to-thr substitution in a highly conserved region.The authors suggested that the mild phenotype is a result of a heterozygous mutation. (2003) identified a heterozygous 2-bp insertion (306AG) in exon 2 in the HESX1 gene, resulting in a truncated protein of 102 amino acids that lacked the C-terminal homeobox domain (DNA-binding domain). The patient had anterior pituitary hypoplasia and an ectopic posterior pituitary, but no optic nerve hypoplasia.The findings were consistent with an autosomal recessive mode of inheritance.The authors noted that the arg160 residue is one of the most highly conserved residues in homeodomain proteins from a broad range of eukaryotic species and has been shown to contact the DNA phosphate backbone in the paired- and engrailed-DNA crystal structures. (2001) identified a heterozygous 509C-T transition in the HESX1 gene, resulting in a ser170-to-leu (S170L) substitution.

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(2001) identified 3 heterozygous mutations in the HESX1 gene (601802.0002, 601802.0003, and 601802.0010, respectively), all of which occurred in a nonconservative codon.

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