Respiratory insufficiency in a newborn with congenital hypothyroidism due to a new mutation of TTF-1/NKX2.1 gene

Pediatric Pulmonology

Volumn 49, Issue 3, 2014, Pages

  Salerno, Teresa ^a   Peca, Donatella ^a   Menchini, Laura ^a   Schiavino, Alessandra ^a   Petreschi, Francesca ^a   Occasi, Francesca ^a   Cogo, Paola ^a   Danhaive, Olivier ^a   Cutrera, Renato ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

hypothyroidism; lung diseases; pulmonary surfactant; thyroid transcriptor factor 1

Indexed keywords

HYPOTHYROIDISM; LUNG DISEASES; PULMONARY SURFACTANT; THYROID TRANSCRIPTOR FACTOR 1;

CONGENITAL HYPOTHYROIDISM; EXONS; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; LUNG DISEASES; MALE; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RESPIRATORY DISTRESS SYNDROME, NEWBORN; SEQUENCE ANALYSIS, DNA; TOMOGRAPHY, X-RAY COMPUTED; TRANSCRIPTION FACTORS;

EID: 84894277566     PISSN: 87556863     EISSN: 10990496     Source Type: Journal    
DOI: 10.1002/ppul.22788     Document Type: Article

References (10)

1. Peca D, Petrini S, Tzialla C, Boldrini R, Morini F, Stronati M, Camielli VP, Cogo PE, Danhaive O,. Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect. Respir Res 2011; 12: 115-322.
2. Kleinlein B, Griese M, Liebissch G, Krude H, Lohse P, Aslanidis C, Schmitz G, Peters J, Holzinger A,. 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: F453-F456.
3. 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: 5671-5681.
4. Liu C, Glasser SW, Wan H, Whitsett JA,. GATA-6 and thyroid transcription factor-1 directly interact and regulate surfactant protein-C gene expression. J Biol Chem 2002; 277: 4519-4525.
5. 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-L1405.
6. Mizuno K, Gonzalez FJ, Kimura S,. Thyroid-specific enhancer-binding protein (T/EBP): cDNA cloning, functional characterization, and structural identity with thyroid transcription factor TTF-1. Mol Cell Biol 1991; 11: 4927-4933.
7. Endo T, Kaneshige M, Nakazato M, Ohmori M, Harii N, Onaya T,. Thyroid transcription factor-1 activates the promoter activity of rat thyroid Na+/I- symporter gene. Mol Endocrinol 1997; 11: 1747-1755.
8. Moya CM, Perez de Nanclares G, Castaño L, Potau N, Bilbao JR, Carrascosa A, Bargadá M, Coya R, Martul P, Vicens-Calvet E, Santisteban P,. Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress. J Clin Endocrinol Metab 2006; 91: 1832-1841.
9. 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: 1317-1318.
10. Nagasaki K, Narumi S, Asami T, Kikuchi T, Hasegawa T, Uchiyama M,. Mutation of a gene for thyroid transcription factor-1 (TITF1) in a patient with clinical features of resistance to thyrotropin. Endocrinol J 2008; 55: 875-878.