A Mutation in TTF1 / NKX2.1 Is Associated With Familial Neuroendocrine Cell Hyperplasia of Infancy

Deterding, 2001, Persistent tachypnea of infancy (PTI)—a new entity, Pediatr Pulmonol, 72, 10.1002/ppul.1950262330 Deterding, 2005, Persistent tachypnea of infancy is associated with neuroendocrine cell hyperplasia, Pediatr Pulmonol, 40, 157, 10.1002/ppul.20243 Young, 2011, Neuroendocrine cell distribution and frequency distinguish neuroendocrine cell hyperplasia of infancy from other pulmonary disorders, Chest, 139, 1060, 10.1378/chest.10-1304 Brody, 2010, Neuroendocrine cell hyperplasia of infancy: diagnosis with high-resolution CT, AJR Am J Roentgenol, 194, 238, 10.2214/AJR.09.2743 Deutsch, 2007, Diffuse lung disease in young children: application of a novel classification scheme, Am J Respir Crit Care Med, 176, 1120, 10.1164/rccm.200703-393OC Kerby GS, Wagner BD, Popler J, et al. Abnormal infant pulmonary function in young children with neuroendocrine cell hyperplasia of infancy [published online ahead of print November 20, 2012]. Pediatr Pulmonol. doi: 10.1002/ppul.22718. Johnson, 1993, Pulmonary neuroendocrine cells in pediatric lung disease: alterations in airway structure in infants with bronchopulmonary dysplasia, Anat Rec, 236, 115, 10.1002/ar.1092360115 Johnson, 1982, Pulmonary neuroendocrine cells in hyaline membrane disease and bronchopulmonary dysplasia, Pediatr Res, 16, 446, 10.1203/00006450-198206000-00009 Johnson, 1988, Changes in bombesin, calcitonin, and serotonin immunoreactive pulmonary neuroendocrine cells in cystic fibrosis and after prolonged mechanical ventilation, Am Rev Respir Dis, 137, 123, 10.1164/ajrccm/137.1.123 Cutz, 2007, Pulmonary neuroendocrine cells and neuroepithelial bodies in sudden infant death syndrome: potential markers of airway chemoreceptor dysfunction, Pediatr Dev Pathol, 10, 106, 10.2350/06-06-0113.1 Perrin, 1991, Hyperplasia of bombesin-immunoreactive pulmonary neuroendocrine cells and neuroepithelial bodies in sudden infant death syndrome, Pediatr Pathol, 11, 431, 10.3109/15513819109064779 Schindler, 1995, Increased respiratory system resistance and bronchial smooth muscle hypertrophy in children with acute postoperative pulmonary hypertension, Am J Respir Crit Care Med, 152, 1347, 10.1164/ajrccm.152.4.7551393 Sunday, 1988, Gastrin-releasing peptide (mammalian bombesin) gene expression in health and disease, Lab Invest, 59, 5 Popler, 2010, Familial neuroendocrine cell hyperplasia of infancy, Pediatr Pulmonol, 45, 749, 10.1002/ppul.21219 DeFelice, 2003, TTF-1 phosphorylation is required for peripheral lung morphogenesis, perinatal survival, and tissue-specific gene expression, J Biol Chem, 278, 35574, 10.1074/jbc.M304885200 Kolla, 2007, Thyroid transcription factor in differentiating type II cells: regulation, isoforms, and target genes, Am J Respir Cell Mol Biol, 36, 213, 10.1165/rcmb.2006-0207OC Wert, 2009, Genetic disorders of surfactant dysfunction, Pediatr Dev Pathol, 12, 253, 10.2350/09-01-0586.1 Bullard, 2005, ABCA3 mutations associated with pediatric interstitial lung disease, Am J Respir Crit Care Med, 172, 1026, 10.1164/rccm.200503-504OC Cameron, 2005, A common mutation in the surfactant protein C gene associated with lung disease, J Pediatr, 146, 370, 10.1016/j.jpeds.2004.10.028 Hamvas, 2013, Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1, Chest, 144, 794, 10.1378/chest.12-2502 Bullard, 2007, Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation, Pediatr Res, 62, 176, 10.1203/PDR.0b013e3180a72588 Wambach, 2012, Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome, Pediatrics, 130, e1575, 10.1542/peds.2012-0918 Austin, 2009, Genetics of pulmonary arterial hypertension, Semin Respir Crit Care Med, 30, 386, 10.1055/s-0029-1233308 Loyd, 2011, Pulmonary arterial hypertension: insights from genetic studies, Proc Am Thorac Soc, 8, 154, 10.1513/pats.201007-047MS Cottin, 2007, Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease), Respiration, 74, 361, 10.1159/000103205 Garcia, 2011, Idiopathic pulmonary fibrosis: update on genetic discoveries, Proc Am Thorac Soc, 8, 158, 10.1513/pats.201008-056MS Krude, 2002, Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency, J Clin Invest, 109, 475, 10.1172/JCI0214341 Pohlenz, 2002, Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice, J Clin Invest, 109, 469, 10.1172/JCI0214192 Breedveld, 2002, Mutations in TITF-1 are associated with benign hereditary chorea, Hum Mol Genet, 11, 971, 10.1093/hmg/11.8.971 Devriendt, 1998, Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure, N Engl J Med, 338, 1317, 10.1056/NEJM199804303381817 Galambos, 2010, Pulmonary pathology in thyroid transcription factor-1 deficiency syndrome, Am J Respir Crit Care Med, 182, 549, 10.1164/rccm.201002-0167CR Kleinlein, 2011, Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis, Arch Dis Child Fetal Neonatal Ed, 96, F453, 10.1136/adc.2009.180448 Teissier, 2012, Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome, Horm Res Paediatr, 77, 146, 10.1159/000337214 Stahlman, 1996, Expression of thyroid transcription factor-1(TTF-1) in fetal and neonatal human lung, J Histochem Cytochem, 44, 673, 10.1177/44.7.8675988 Kimura, 2007, Key mechanisms of early lung development, Pediatr Dev Pathol, 10, 335, 10.2350/07-06-0290.1 Tagne, 2012, Genome-wide analyses of Nkx2-1 binding to transcriptional target genes uncover novel regulatory patterns conserved in lung development and tumors, PLoS ONE, 7, e29907, 10.1371/journal.pone.0029907 Guillot, 2010, NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in “Brain-Lung-Thyroid Syndrome.”, Hum Mutat, 31, E1146, 10.1002/humu.21183 Christophe-Hobertus, 1999, Critical residues of the homeodomain involved in contacting DNA bases also specify the nuclear accumulation of thyroid transcription factor-1, Eur J Biochem, 265, 491, 10.1046/j.1432-1327.1999.00796.x Ng, 2001, Predicting deleterious amino acid substitutions, Genome Res, 11, 863, 10.1101/gr.176601 Adzhubei, 2010, A method and server for predicting damaging missense mutations, Nat Methods, 7, 248, 10.1038/nmeth0410-248 Choi, 2012, Predicting the functional effect of amino acid substitutions and indels, PLoS ONE, 7, e46688, 10.1371/journal.pone.0046688 NHLBI Exome Sequencing Project (ESP) 1000 Genomes Project Consortium, 2010, A map of human genome variation from population-scale sequencing [published correction appears in Nature. 2011;473(7348):544], Nature, 467, 1061 Amin, 2001, Surfactant protein deficiency in familial interstitial lung disease, J Pediatr, 139, 85, 10.1067/mpd.2001.114545 Thomas, 2002, Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred, Am J Respir Crit Care Med, 165, 1322, 10.1164/rccm.200112-123OC Steele, 2005, Clinical and pathologic features of familial interstitial pneumonia, Am J Respir Crit Care Med, 172, 1146, 10.1164/rccm.200408-1104OC Lukkarinen, 2013, Neuroendocrine cell hyperplasia of infancy: a prospective follow-up of nine children, Arch Dis Child, 98, 141, 10.1136/archdischild-2012-302115 Popler, 2010, Beyond infancy: persistence of chronic lung disease in neuroendocrine cell hyperplasia of infancy (NEHI), Am J Respir Crit Care Med, 181, A6721