Brain-Lung-Thyroid Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/brain-lung-thyroid-syndrome

Brain-lung-thyroid syndrome is a group of conditions that affect the brain, lungs, and thyroid gland (a butterfly-shaped gland in the lower neck). Brain-lung-thyroid syndrome historically included problems with all three organs, although the designation now encompasses a combination of brain, lung, and thyroid problems. About 50 percent of affected individuals have problems with all three organs, about 30 percent have brain and thyroid problems, and about 10 percent have brain and lung problems. The brain alone is affected in 10 to 20 percent of people with the condition. Such cases are sometimes called isolated benign hereditary chorea.

genetic conditions

References

Carré A, Szinnai G, Castanet M, Sura-Trueba S, Tron E, Broutin-L'Hermite I,Barat P, Goizet C, Lacombe D, Moutard ML, Raybaud C, Raynaud-Ravni C, Romana S,Ythier H, Léger J, Polak M. Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. Hum Mol Genet. 2009 Jun15;18(12):2266-76. doi: 10.1093/hmg/ddp162.
Gras D, Jonard L, Roze E, Chantot-Bastaraud S, Koht J, Motte J, Rodriguez D,Louha M, Caubel I, Kemlin I, Lion-François L, Goizet C, Guillot L, Moutard ML,Epaud R, Héron B, Charles P, Tallot M, Camuzat A, Durr A, Polak M, Devos D,Sanlaville D, Vuillaume I, Billette de Villemeur T, Vidailhet M, Doummar D.Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long termfollow-up in a large series with new mutations in the TITF1/NKX2-1 gene. J NeurolNeurosurg Psychiatry. 2012 Oct;83(10):956-62. doi: 10.1136/jnnp-2012-302505.
Guillot L, Carré A, Szinnai G, Castanet M, Tron E, Jaubert F, Broutin I,Counil F, Feldmann D, Clement A, Polak M, Epaud R. NKX2-1 mutations leading tosurfactant protein promoter dysregulation cause interstitial lung disease in"Brain-Lung-Thyroid Syndrome". Hum Mutat. 2010 Feb;31(2):E1146-62. doi:10.1002/humu.21183.
Hamvas A, Deterding RR, Wert SE, White FV, Dishop MK, Alfano DN, Halbower AC, Planer B, Stephan MJ, Uchida DA, Williames LD, Rosenfeld JA, Lebel RR, Young LR, Cole FS, Nogee LM. Heterogeneous pulmonary phenotypes associated with mutationsin the thyroid transcription factor gene NKX2-1. Chest. 2013 Sep;144(3):794-804. doi: 10.1378/chest.12-2502.
Krude H, Schütz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, TönniesH, Weise D, Lafferty A, Schwarz S, DeFelice M, von Deimling A, van Landeghem F,DiLauro R, Grüters A. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest. 2002 Feb;109(4):475-80.
Nettore IC, Mirra P, Ferrara AM, Sibilio A, Pagliara V, Kay CS, Lorenzoni PJ, Werneck LC, Bruck I, Dos Santos LH, Beguinot F, Salvatore D, Ungaro P, Fenzi G,Scola RH, Macchia PE. Identification and functional characterization of a novelmutation in the NKX2-1 gene: comparison with the data in the literature. Thyroid.2013 Jun;23(6):675-82. doi: 10.1089/thy.2012.0267.
Shetty VB, Kiraly-Borri C, Lamont P, Bikker H, Choong CS. NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients. J Pediatr EndocrinolMetab. 2014 Mar;27(3-4):373-8. doi: 10.1515/jpem-2013-0109.
Williamson S, Kirkpatrick M, Greene S, Goudie D. A novel mutation of NKX2-1affecting 2 generations with hypothyroidism and choreoathetosis: part of thespectrum of brain-thyroid-lung syndrome. J Child Neurol. 2014 May;29(5):666-9.doi: 10.1177/0883073813518243.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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