A new mutation in the promoter region of the pax8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with down's syndrome

Thyroid

Volumn 24, Issue 6, 2014, Pages 939-944

  Hermanns, Pia ^a   Shepherd, Scott ^b   Mansor, Mohamed ^c   Schulga, John ^c   Jones, Jez ^b   Donaldson, Malcolm ^b   Pohlenz, Joachim ^a  

^a UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^b ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^c FORTH VALLEY ROYAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; LEVOTHYROXINE; RADIOISOTOPE; THYROGLOBULIN ANTIBODY; THYROID PEROXIDASE ANTIBODY; THYROTROPIN; THYROXINE; TRANSCRIPTION FACTOR PAX8; PAIRED BOX TRANSCRIPTION FACTOR; PAX8 PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CONGENITAL HYPOTHYROIDISM; DNA SEQUENCE; DOWN SYNDROME; FEMALE; GENE MUTATION; HELA CELL LINE; HUMAN; HUMAN CELL; NEWBORN; NEWBORN SCREENING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; THYROID DYSGENESIS; THYROID SCINTISCANNING; TRANSCRIPTION INITIATION SITE; TRISOMY 21; ULTRASOUND; COMPLICATION; GENETICS; HEK293 CELL LINE; INFANT;

CONGENITAL HYPOTHYROIDISM; DOWN SYNDROME; FEMALE; HEK293 CELLS; HELA CELLS; HUMANS; INFANT; INFANT, NEWBORN; PAIRED BOX TRANSCRIPTION FACTORS; PROMOTER REGIONS, GENETIC; THYROID DYSGENESIS;

EID: 84902164495     PISSN: 10507256     EISSN: 15579077     Source Type: Journal    
DOI: 10.1089/thy.2013.0248     Document Type: Article

References (26)

1. 1. De Felice M, Di Lauro R 2004 Thyroid development and its disorders: Genetics and molecular mechanisms. Endocr Rev 25:722-746. (Pubitemid 39362295)
2. Ramos HE, Nesi-Franca S, Boldarine VT, Pereira RM, Chiamolera MI, Camacho CP, Graf H, de Lacerda L, Carvalho GA, Maciel RM 2009 Clinical and molecular analysis of thyroid hypoplasia: A population-based approach in southern Brazil. Thyroid 19:61-68.
3. Pohlenz J, van Vliet G 2010 Developmental abnormalities of the thyroid. In: Weiss RE, Refetoff S (eds) Genetic Diagnosis of Endocrine Disease. Vol. 1. Elsevier, New York, pp. 97-104.
4. de Sanctis L, Corrias A, Romagnolo D, Di Palma T, Biava A, Borgarello G, Gianino P, Silvestro L, Zannini M, Dianzani I 2004 Familial PAX8 small deletion (c.989-992delACCC) associated with extreme phenotype variability. J Clin Endocrinol Metab 89:5669-5674.
5. Vassart G, Dumont JE 2005 Thyroid dysgenesis: Multigenic or epigenetic.or both Endocrinology 146:5035-5037. (Pubitemid 41653015)
6. Hermanns P, Grasberger H, Refetoff S, Pohlenz J 2011 Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis. J Clin Endocrinol Metab 96:E977-981.
7. Morris JK, Alberman E 2009 Trends in Down's syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008: Analysis of data from the National Down Syndrome Cytogenetic Register. BMJ 339:b3794.
8. Claret C, Goday A, Benaiges D, Chillaron JJ, Flores JA, Hernandez E, Corretger JM, Cano JF 2013 Subclinical hypothyroidism in the first years of life in patients with Down syndrome. Pediatr Res 73:674-678.
9. Pozzan GB, Rigon F, Girelli ME, Rubello D, Busnardo B, Baccichetti C 1990 Thyroid function in patients with Down syndrome: Preliminary results from non-institutionalized patients in the Veneto region. Am J Med Genet Suppl 7:57-58.
10. van Trotsenburg AS, Vulsma T, van Santen HM, Cheung W, de Vijlder JJ 2003 Lower neonatal screening thyroxine concentrations in down syndrome newborns. J Clin Endocrinol Metab 88:1512-1515. (Pubitemid 36623362)
11. Schreiber E, Matthias P, Muller MM, Schaffner W 1989 Rapid detection of octamer binding proteins with "miniextracts," prepared from a small number of cells. Nucleic Acids Res 17:6419. (Pubitemid 19198635)
12. Towbin H, Staehelin T, Gordon J 1979 Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: Procedure and some applications. Proc Natl Acad Sci USA 76:4350-4354. (Pubitemid 9256559)
13. Fort P, Lifshitz F, Bellisario R, Davis J, Lanes R, Pugliese M, Richman R, Post EM, David R 1984 Abnormalities of thyroid function in infants with Down syndrome. J Pediatr 104:545-549. (Pubitemid 14125678)
14. Oakley GA, Muir T, Ray M, Kennedy R, Girdwood RWA, Donaldson MDC 1998 Increased incidence of congenital malformation in infants with TSH elevation detected on newborn screening. J Pediatr 132:726-730. (Pubitemid 28194600)
15. Luton D, Azria E, Polak M, Carre A, Vuillard E, Delezoide AL, Guibourdenche J 2012 Thyroid function in fetuses with down syndrome. Horm Res Paediatr 78:88-93.
16. van Trotsenburg AS, Kempers MJ, Endert E, Tijssen JG, de Vijlder JJ, Vulsma T 2006 Trisomy 21 causes persistent congenital hypothyroidism presumably of thyroidal origin. Thyroid 16:671-680.
17. Meyerovitch J, Antebi F, Greenberg-Dotan S, Bar-Tal O, Hochberg Z 2012 Hyperthyrotropinaemia in untreated subjects with Down's syndrome aged 6 months to 64 years: A comparative analysis. Arch Dis Child 97:595-598.
18. Mengreli C, Maniati-Christidi M, Kanaka-Gantenbein C, Girginoudis P, Vagenakis AG, Dacou-Voutetakis C 2003 Transient congenital hypothyroidism due to maternal autoimmune thyroid disease. Hormones (Athens) 2:113-119.
19. Kozak M 1987 An analysis of 5¢-noncoding sequences from 699 vertebrate messenger RNAs. Nucleic Acids Res 15: 8125-8148.
20. Smale ST, Kadonaga JT 2003 The RNA polymerase II core promoter. Annu Rev Biochem 72:449-479. (Pubitemid 36930452)
21. Corden J, Wasylyk B, Buchwalder A, Sassone-Corsi P, Kedinger C, Chambon P 1980 Promoter sequences of eukaryotic protein-coding genes. Science 209:1406-1414. (Pubitemid 11181473)
22. Nitsch R, Di Dato V, di Gennaro A, de Cristofaro T, Abbondante S, De Felice M, Zannini M, Di Lauro R 2010 Comparative genomics reveals a functional thyroid-specific element in the far upstream region of the PAX8 gene. BMC Genomics 11:306.
23. Narumi S, Araki S, Hori N, Muroya K, Yamamoto Y, Asakura Y, Adachi M, Hasegawa T 2012 Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: New evidence for haploinsufficiency as a disease mechanism. Eur J Endocrinol 167:625-632.
24. Carvalho A, Hermanns P, Rodrigues AL, Cabral R, Bikker H, Sousa I, Anselmo JD, Pereira-Duarte C, Mota-Vieira L, Pohlenz J 2013 A new Pax8 mutation causing congenital hypothyroidism in three henerations of a family is associated with abnormalities in the urogenital tract. Thyroid 23:1074-1078.
25. Macchia PE, Lapi P, Krude H, Pirro MT, Missero C, Chiovato L, Souabni A, Baserga M, Tassi V, Pinchera A, Fenzi G, Gruters A, Busslinger M, Di Lauro R 1998 PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet 19:83-86. (Pubitemid 28242030)
26. Congdon T, Nguyen LQ, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P 2001 A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: Evidence for phenotypic variability in mother and child. J Clin Endocrinol Metab 86:3962-3967. (Pubitemid 32756004)