A mutation in TTF1/NKX2.1 is associated with familial neuroendocrine cell hyperplasia of infancy

Chest

Volumn 144, Issue 4, 2013, Pages 1199-1206

  Young, Lisa R ^a   Deutsch, Gail H ^b   Bokulic, Ronald E ^c   Brody, Alan S ^c   Nogee, Lawrence M ^d  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c UNIVERSITY OF CINCINNATI   (United States)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

OXYGEN; TRANSCRIPTION FACTOR NKX2.2;

AMINO ACID SUBSTITUTION; ARTICLE; BREAST FEEDING; CASE REPORT; CHILDHOOD DISEASE; CLINICAL FEATURE; CODON; COMPUTER ASSISTED TOMOGRAPHY; EXERCISE TOLERANCE; EXTENDED FAMILY; FAILURE TO THRIVE; FAMILIAL DISEASE; FAMILY HISTORY; FORCED EXPIRATORY VOLUME; FORCED VITAL CAPACITY; FUNCTIONAL RESIDUAL CAPACITY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HETEROZYGOSITY; HOME OXYGEN THERAPY; HUMAN; HUMAN TISSUE; HYPOXEMIA; INFANT; LUNG BIOPSY; LUNG DISEASE; LUNG FUNCTION TEST; MEDICAL HISTORY; NEUROENDOCRINE CELL HYPERPLASIA OF INFANCY; NEUROSECRETORY CELL; NKX2 1 GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RESIDUAL VOLUME; SEQUENCE ANALYSIS; TACHYPNEA; TTF1 GENE; WALKING SPEED;

EID: 84885152979     PISSN: 00123692     EISSN: 19313543     Source Type: Journal    
DOI: 10.1378/chest.13-0811     Document Type: Article

References (48)

1. Deterding RR, Fan LL, Morton R, Hay TC, Langston C. Persistent tachypnea of infancy (PTI) - a new entity. Pediatr Pulmonol. 2001; suppl 23: 72-73.
2. Deterding RR, Pye C, Fan LL, Langston C. Persistent tachypnea of infancy is associated with neuroendocrine cell hyperplasia. Pediatr Pulmonol. 2005; 40 (2): 157-165.
3. Young LR, Brody AS, Inge TH, et al. Neuroendocrine cell distribution and frequency distinguish neuroendocrine cell hyperplasia of infancy from other pulmonary disorders. Chest. 2011; 139 (5): 1060-1071.
4. Brody AS, Guillerman RP, Hay TC, et al. Neuroendocrine cell hyperplasia of infancy: diagnosis with high-resolution CT. AJR Am J Roentgenol. 2010; 194 (1): 238-244.
5. Deutsch GH, Young LR, Deterding RR, et al; Pathology Cooperative Group; ChILD Research Co-operative. Diffuse lung disease in young children: application of a novel classifi- cation scheme. Am J Respir Crit Care Med. 2007; 176 (11): 1120-1128.
6. Kerby GS, Wagner BD, Popler J, et al. Abnormal infant pul monary 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.
7. Johnson DE, Anderson WR, Burke BA. Pulmonary neuroendocrine cells in pediatric lung disease: alterations in airway structure in infants with bronchopulmonary dysplasia. Anat Rec. 1993; 236: 115-119, 172-173.
8. Johnson DE, Lock JE, Elde RP, Thompson TR. Pulmonary neuroendocrine cells in hyaline membrane disease and bronchopulmonary dysplasia. Pediatr Res. 1982; 16 (6): 446-454.
9. Johnson DE, Wobken JD, Landrum BG. Changes in bombesin, calcitonin, and serotonin immunoreactive pulmonary neuroendocrine cells in cystic fibrosis and after prolonged mechanical ventilation. Am Rev Respir Dis. 1988; 137(1): 123-131.
10. Cutz E, Perrin DG, Pan J, Haas EA, Krous HF. Pulmonary neuroendocrine cells and neuroepithelial bodies in sudden infant death syndrome: potential markers of airway chemoreceptor dysfunction. Pediatr Dev Pathol. 2007; 10 (2): 106-116.
11. Perrin DG, McDonald TJ, Cutz E. Hyperplasia of bombesinimmunoreactive pulmonary neuroendocrine cells and neuroepithelial bodies in sudden infant death syndrome. Pediatr Pathol. 1991; 11 (3): 431-447.
12. Schindler MB, Bohn DJ, Bryan AC, Cutz E, Rabinovitch M. Increased respiratory system resistance and bronchial smooth muscle hypertrophy in children with acute postoperative pulmonary hypertension. Am J Respir Crit Care Med. 1995; 152 (4 pt 1): 1347-1352.
13. Sunday ME, Kaplan LM, Motoyama E, Chin WW, Spindel ER. Gastrin-releasing peptide (mammalian bombesin) gene expression in health and disease. Lab Invest. 1988; 59 (1): 5-24.
14. Popler J, Gower WA, Mogayzel PJ Jr, et al. Familial neuroendocrine cell hyperplasia of infancy. Pediatr Pulmonol. 2010; 45 (8): 749-755.
15. DeFelice M, Silberschmidt D, DiLauro R, et al. TTF-1 phosphorylation is required for peripheral lung morphogenesis, perinatal survival, and tissue-specific gene expression. J Biol Chem. 2003; 278 (37): 35574-35583.
16. Kolla V, Gonzales LW, Gonzales J, et al. Thyroid transcription factor in differentiating type II cells: regulation, isoforms, and target genes. Am J Respir Cell Mol Biol. 2007; 36 (2): 213-225.
17. Wert SE, Whitsett JA, Nogee LM. Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol. 2009; 12 (4): 253-274.
18. Bullard JE, Wert SE, Whitsett JA, Dean M, Nogee LM. ABCA3 mutations associated with pediatric interstitial lung disease. Am J Respir Crit Care Med. 2005; 172 (8): 1026-1031.
19. Cameron HS, Somaschini M, Carrera P, et al. A common mutation in the surfactant protein C gene associated with lung disease. J Pediatr. 2005; 146 (3): 370-375.
20. Hamvas A, Deterding RR, Wert SE, et al. Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1. Chest. 2013; 144(3): 794-804.
21. Bullard JE, Nogee LM. Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation. Pediatr Res. 2007; 62 (2): 176-179.
22. Wambach JA, Wegner DJ, Depass K, et al. Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. Pediatrics. 2012; 130 (6): e1575-e1582.
23. Austin ED, Loyd JE, Phillips JA 3rd. Genetics of pulmonary arterial hypertension. Semin Respir Crit Care Med. 2009; 30 (4): 386-398.
24. Loyd JE. Pulmonary arterial hypertension: insights from genetic studies. Proc Am Thorac Soc. 2011; 8 (2): 154-157.
25. Cottin V, Dupuis-Girod S, Lesca G, Cordier JF. Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease). Respiration. 2007; 74 (4): 361-378.
26. Garcia CK. Idiopathic pulmonary fibrosis: update on genetic discoveries. Proc Am Thorac Soc. 2011; 8 (2): 158-162.
27. Krude H, Schütz B, Biebermann H, et al. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest. 2002; 109(4): 475-480.
28. 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 (4): 469-473.
29. Breedveld GJ, van Dongen JW, Danesino C, et al. Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet. 2002; 11 (8): 971-979.
30. Devriendt K, Vanhole C, Matthijs G, de Zegher F. Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. N Engl J Med. 1998; 338 (18): 1317-1318.
31. Galambos C, Levy H, Cannon CL, et al. Pulmonary pathology in thyroid transcription factor-1 deficiency syndrome. Am J Respir Crit Care Med. 2010; 182 (4): 549-554.
32. Kleinlein B, Griese M, Liebisch G, et al. 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. 2011; 96 (6): F453-F456.
33. Teissier R, Guillot L, Carré A, et al. Multiplex Ligationdependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome. Horm Res Paediatr. 2012; 77 (3): 146-151.
34. Stahlman MT, Gray ME, Whitsett JA. Expression of thyroid transcription factor-1(TTF-1) in fetal and neonatal human lung. J Histochem Cytochem. 1996; 44 (7): 673-678.
35. Kimura J, Deutsch GH. Key mechanisms of early lung development. Pediatr Dev Pathol. 2007; 10 (5): 335-347.
36. Tagne JB, Gupta S, Gower AC, et al. Genome-wide analyses of Nkx2-1 binding to transcriptional target genes uncover novel regulatory patterns conserved in lung development and tumors. PLoS ONE. 2012; 7 (1): e29907.
37. 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 (2): E1146-E1162.
38. Christophe-Hobertus C, Duquesne V, Pichon B, Roger PP, Christophe D. Critical residues of the homeodomain involved in contacting DNA bases also specify the nuclear accumulation of thyroid transcription factor-1. Eur J Biochem. 1999; 265 (1): 491-497.
39. Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res. 2001; 11 (5): 863-874.
40. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7 (4): 248-249.
41. Choi Y, Sims GE, Murphy S, Miller JR, Chan AP. Predicting the functional effect of amino acid substitutions and indels. PLoS ONE. 2012; 7 (10): e46688.
42. NHLBI Exome Sequencing Project (ESP). Exome variant server. University of Washington website. http://snp.gs. washington.edu/EVS. Accessed March 20, 2013.
43. 1000 Genomes Project Consortium; Abecasis GR, Altshuler D, Auton A, et al. A map of human genome variation from population-scale sequencing [published correction appears in Nature. 2011;473(7348): 544]. Nature. 2010; 467 (7319): 1061-1073.
44. Amin RS, Wert SE, Baughman RP, et al. Surfactant protein deficiency in familial interstitial lung disease. J Pediatr. 2001; 139 (1): 85-92.
45. Thomas AQ, Lane K, Phillips J III, et al. 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. 2002; 165 (9): 1322-1328.
46. Steele MP, Speer MC, Loyd JE, et al. Clinical and pathologic features of familial interstitial pneumonia. Am J Respir Crit Care Med. 2005; 172 (9): 1146-1152.
47. Lukkarinen H, Pelkonen A, Lohi J, et al. Neuroendocrine cell hyperplasia of infancy: a prospective follow-up of nine children. Arch Dis Child. 2013; 98 (2): 141-144.
48. Popler J, Young LR, Deterding RR. Beyond infancy: persistence of chronic lung disease in neuroendocrine cell hyperplasia of infancy (NEHI). Am J Respir Crit Care Med. 2010; 181 (Meeting Abstracts): A6721.