Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: Alteration of pulmonary surfactant homeostasis

Archives of Disease in Childhood: Fetal and Neonatal Edition

Volumn 96, Issue 6, 2011, Pages

  Kleinlein, Barbara ^a   Griese, Matthias ^b   Liebisch, Gerhard ^c   Krude, Heiko ^d   Lohse, Peter ^b   Aslanidis, Charalampos ^c   Schmitz, Gerd ^c   Peters, Jochen ^a   Holzinger, Andreas ^b  

^a Kinderklinik Dritter Orden   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c UNIVERSITY OF REGENSBURG   (Germany)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOLIPID; SURFACTANT ASSOCIATED PROTEIN; SURFACTANT PROTEIN B; SURFACTANT PROTEIN C;

ABCA3 GENE; ALLELE; ARTICLE; CASE REPORT; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HAPLOINSUFFICIENCY; HUMAN; INFANT; LIPID METABOLISM; LUNG LAVAGE; MALE; NKX2 1 GENE; PRIORITY JOURNAL; RESPIRATORY FAILURE; SFTPB GENE; SFTPC GENE;

CONGENITAL HYPOTHYROIDISM; FATAL OUTCOME; HAPLOINSUFFICIENCY; HOMEOSTASIS; HUMANS; INFANT, NEWBORN; MALE; NUCLEAR PROTEINS; PULMONARY SURFACTANTS; RESPIRATORY INSUFFICIENCY; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED; TRANSCRIPTION FACTORS;

EID: 80054751137     PISSN: 13592998     EISSN: 14682052     Source Type: Journal    
DOI: 10.1136/adc.2009.180448     Document Type: Article

References (21)

1. Nogee LM, de Mello DE, Dehner LP, et al. Brief report: deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis. N Engl J Med 1993;328:406-10. (Pubitemid 23042289)
2. Nogee LM, Dunbar AE 3rd, Wert SE, et al. A mutation in the surfactant protein C gene associated with familial interstitial lung disease. N Engl J Med 2001;344:573-9. (Pubitemid 32167871)
3. Shulenin S, Nogee LM, Annilo T, et al. ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med 2004;350:1296-303. (Pubitemid 38375364)
4. Kimura S, Hara Y, Pineau T, et al. The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary. Genes Dev 1996;10:60-9. (Pubitemid 26025299)
5. Devriendt K, Vanhole C, Matthijs G, et al. Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. N Engl J Med 1998;338:1317-18. (Pubitemid 28216593)
6. Pohlenz J, Dumitrescu A, Zundel D, et al. Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest 2002;109:469-73. (Pubitemid 34171777)
7. Krude H, Schütz B, Biebermann H, et al. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 2002;109:475-80. (Pubitemid 34171778)
8. Willemsen MA, Breedveld GJ, Wouda S, et al. Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene. Eur J Pediatr 2005;164:28-30. (Pubitemid 40110004)
9. Carré A, Szinnai G, Castanet M, et al. Five new TTF1/NKX2.1 mutations in brainlung- thyroid syndrome: rescue by PAX8 synergism in one case. Hum Mol Genet 2009;18:2266-76.
10. Maquet E, Costagliola S, Parma J, et al. Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene. J Clin Endocrinol Metab 2009;94:197-203.
11. Brasch F, Schimanski S, Mühlfeld C, et al. Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency. Am J Respir Crit Care Med 2006;174:571-80. (Pubitemid 44330551)
12. Griese M, Schumacher S, Tredano M, et al. Expression profiles of hydrophobic surfactant proteins in children with diffuse chronic lung disease. Respir Res 2005;6:80.
13. Liebisch G, Lieser B, Rathenberg J, et al. High-throughput quantification of phosphatidylcholine and sphingomyelin by electrospray ionization tandem mass spectrometry coupled with isotope correction algorithm. Biochim Biophys Acta 2004;1686:108-17.
14. Tafel O, Latzin P, Paul K, et al. Surfactant proteins SP-B and SP-C and their precursors in bronchoalveolar lavages from children with acute and chronic inflammatory airway disease. BMC Pulm Med 2008;8:6.
15. Thomas KH, Meyn P, Suttorp N. Single nucleotide polymorphism in 5′-flanking region reduces transcription of surfactant protein B gene in H441 cells. Am J Physiol Lung Cell Mol Physiol 2006;291:L386-90. (Pubitemid 44343714)
16. Guillot L, Carré A, Szinnai G, et al. NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung- Thyroid Syndrome". Hum Mutat 2010;31:E1146-62.
17. Kelly SE, Bachurski CJ, Burhans MS, et al. Transcription of the lung-specific surfactant protein C gene is mediated by thyroid transcription factor 1. J Biol Chem 1996;271:6881-8. (Pubitemid 26104788)
18. Park KS, Whitsett JA, Di Palma T, et al. TAZ interacts with TTF-1 and regulates expression of surfactant protein-C. J Biol Chem 2004;279:17384-90. (Pubitemid 38560499)
19. Besnard V, Xu Y, Whitsett JA. Sterol response element binding protein and thyroid transcription factor-1 (Nkx2.1) regulate Abca3 gene expression. Am J Physiol Lung Cell Mol Physiol 2007;293:L1395-405. (Pubitemid 350255022)
20. Bohinski RJ, Di Lauro R, Whitsett JA. The lung-specific surfactant protein B gene promoter is a target for thyroid transcription factor 1 and hepatocyte nuclear factor 3, indicating common factors for organ-specific gene expression along the foregut axis. Mol Cell Biol 1994;14:5671-81.
21. Foreman MG, DeMeo DL, Hersh CP, et al. Polymorphic variation in surfactant protein B is associated with COPD exacerbations. Eur Respir J 2008;32:938-44.