Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Homeobox protein Nkx-2.1

The NKX2-1 gene encodes a thyroid specific transcription factor. Mutations cause the following autosomal dominant conditions: non-medullary thyroid cancer, hypothyroidism, choreoathetosis, and neonatal respiratory distress.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Hereditary benign chorea
NKX2-1
Choreoathetosis with hypothyroidism and neonatal respiratory distress
NKX2-1
Non-medullary thyroid cancer 4
NKX2-1

References:

1.

Zhu NL et. al. (2004) NKX2.1 regulates transcription of the gene for human bone morphogenetic protein-4 in lung epithelial cells.

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2.

Garcia-Barcelo M et. al. (2005) TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease.

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3.

Trueba SS et. al. (2005) PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations.

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4.

Guazzi S et. al. (1990) Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity.

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5.

Acebrón A et. al. (1995) Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1.

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6.

Ikeda K et. al. (1995) Gene structure and expression of human thyroid transcription factor-1 in respiratory epithelial cells.

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7.

Kimura S et. al. (1996) The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary.

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8.

Hamdan H et. al. (1998) Structure of the human Nkx2.1 gene.

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9.

Devriendt K et. al. (1998) Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure.

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10.

Iwatani N et. al. (2000) Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure.

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11.

Seidman JG et. al. (2002) Transcription factor haploinsufficiency: when half a loaf is not enough.

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12.

Pohlenz J et. al. (2002) Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.

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13.

Krude H et. al. (2002) Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.

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14.

Breedveld GJ et. al. (2002) Mutations in TITF-1 are associated with benign hereditary chorea.

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15.

Kleiner-Fisman G et. al. (2003) Benign hereditary chorea: clinical, genetic, and pathological findings.

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16.

Doyle DA et. al. (2004) Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.

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17.

Asmus F et. al. (2005) A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa.

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18.

Dentice M et. al. (2005) Pendrin is a novel in vivo downstream target gene of the TTF-1/Nkx-2.1 homeodomain transcription factor in differentiated thyroid cells.

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19.

Garcia-Barceló MM et. al. (2007) Evaluation of the thyroid transcription factor-1 gene (TITF1) as a Hirschsprung's disease locus.

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20.

Holland PW et. al. (2007) Classification and nomenclature of all human homeobox genes.

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21.

Weir BA et. al. (2007) Characterizing the cancer genome in lung adenocarcinoma.

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22.

Ngan ES et. al. (2009) A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma.

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23.

Carré A et. al. (2009) Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.

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24.

Winslow MM et. al. (2011) Suppression of lung adenocarcinoma progression by Nkx2-1.

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25.

Taniguchi H et. al. (2013) The spatial and temporal origin of chandelier cells in mouse neocortex.

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26.

Thorwarth A et. al. (2014) Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.

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Update: Sept. 26, 2018