Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Choreoathetosis with hypothyroidism and neonatal respiratory distress

Choreoathetosis with hypothyroidism and neonatal respiratory distress is an autosomal dominant disorder caused by mutations of the NKX2-1 gene.

Systematic

Hypothyroidism
Bamforth-Lazarus syndrome
Central hypothyroidism
Choreoathetosis with hypothyroidism and neonatal respiratory distress
NKX2-1
Congenital nongoitrous hypothyroidism
Neonatal diabetes mellitus with congenital hypothyroidism
Thyroid dyshormonogenesis

References:

1.

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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2.

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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3.

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

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4.

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

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5.

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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6.

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

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7.

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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8.

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