Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Homeobox protein HESX1

The HESX1 gene encodes a transcription factor involved in the development of forebrain and pituitary gland. Mutations in this gene cause autosomal recessive and dominant with variable penetrance septooptic dysplasia also called growth hormone deficiency with pituitary abnormalities.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Pituitary hormone deficiency type 5
HESX1

References:

1.

Hermesz E et. al. (1996) Rpx: a novel anterior-restricted homeobox gene progressively activated in the prechordal plate, anterior neural plate and Rathke's pouch of the mouse embryo.

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2.

Wales JK et. al. (1996) Evidence for possible Mendelian inheritance of septo-optic dysplasia.

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3.

Thomas P et. al. (1996) Anterior primitive endoderm may be responsible for patterning the anterior neural plate in the mouse embryo.

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4.

Dattani MT et. al. (1998) Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.

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5.

Thomas PQ et. al. (2001) Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

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6.

Brickman JM et. al. (2001) Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders.

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7.

Tajima T et. al. (2003) Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.

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8.

Cohen RN et. al. (2003) Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia.

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9.

Carvalho LR et. al. (2003) A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.

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10.

Sobrier ML et. al. (2006) Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities.

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11.

McNay DE et. al. (2007) HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

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Update: Sept. 26, 2018