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 Massive parallel sequencing
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 Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Pituitary hormone deficiency type 5
HESX1

References:

1.

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

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2.

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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3.

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

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4.

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

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5.

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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6.

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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7.

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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8.

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

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9.

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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10.

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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11.

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

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12.

NCBI article

NCBI 8820 [^]
13.

OMIM.ORG article

Omim 601802 [^]
14.

Orphanet article

Orphanet ID 122398 [^]
15.

Wikipedia article

Wikipedia EN (HESX1) [^]
Update: April 29, 2019