Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Choreoathetose mit Hypothyreose und neonatalem Atemnotsyndrom

Die Choreoathetose mit Hypothyreose und neonatalem Atemnotsyndrom ist eine autosomal dominante Erkrankung, die durch Mutationen im NKX2-1-Gen ausgelöst wird.

Gliederung

Hypothyreose
Bamforth-Lazarus-Syndrom
Choreoathetose mit Hypothyreose und neonatalem Atemnotsyndrom
NKX2-1
Kongenitale Hypothyreose ohne Struma
Neonataler Diabetes mellitus mit angeborener Hypothyreose
Thyroiddyshormonogenesis
Zentrale Hypothyreose

Referenzen:

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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