The C105fs114X is the prevalent thyrotropin beta-subunit gene mutation in Argentinean patients with congenital central hypothyroidism

Hormone Research

Volumn 61, Issue 1, 2004, Pages 41-46

  Domené, Horacio M ^a   Gruñeiro Papendieck, Laura ^a   Chiesa, Ana ^a   Iorcansky, Sonia ^b   Herzovich, Viviana C ^b   Papazian, Regina ^c   Forclaz, Verónica ^c   Prieto, Laura ^a   Sansó, Gabriela ^a   Scaglia, Paula ^a   Bre, Mónica ^d   Chamoux, Alfredo ^d   Heinrich, Juan J ^a  

^a HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^b HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^c HOSPITAL NACIONAL PROFESOR ALEJANDRO POSADAS   (Argentina)

^d HOSPITAL GENERAL DE NIÑOS PEDRO DE ELIZALDE   (Argentina)

Author keywords

Congenital central hypothyroidism; Thyrotropin subunit gene mutation

Indexed keywords

LIOTHYRONINE; THYROTROPIN; THYROTROPIN BETA SUBUNIT; THYROXINE;

ADOLESCENT; ARGENTINA; ARTICLE; CHILD; CLINICAL ARTICLE; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; DIAGNOSTIC VALUE; FAMILY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; LIOTHYRONINE BLOOD LEVEL; MALE; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING; SEQUENCE ANALYSIS; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL;

CHILD; CONGENITAL HYPOTHYROIDISM; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; HOMOZYGOTE; HUMANS; HYPOTHYROIDISM; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; SEQUENCE ANALYSIS, DNA; THYROTROPIN, BETA SUBUNIT;

EID: 12144286287     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000075196     Document Type: Article

References (18)

1. Biebermann H, Liesenkotter KP, Emeis M, Obladen M, Gruters A: Severe congenital hypothyroidism due to a homozygous mutation of the β-TSH gene. Pediatr Rev 1999;46:170-173.
2. Medeiros Neto G, Herodotou DT, Rajan S, Kommareddi S, de Lacerda L, Sandrini R, Boguszewski MCS, Hollenberg AN, Rodovick S, Wondisford FE: A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene. J Clin Invest 1996;97:1250-1256.
3. Bonomi M, Proverbio MC, Weber G, Chiumello G, Beck-Peccoz P, Persani L: Hyperplastic pituitary gland, high serum glycoprotein hormone α subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the βTSH gene. J Clin Endocrinol Metab 2001;86:1600-1604.
4. Dacou-Voutetakis C, Feltquate DM, Prakopoulou M, Kourides IA, Dracopoli NC: Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone β subunit gene. Am J Hum Genet 1990;46:988-993.
5. Vuissoz J-M, Deladoëy J, Buyukgebiz A, Cemeroglu P, Gex G, Gallati, S, Mullis PE: New autosomal recessive mutation of the TSH-β subunit gene causing central isolated hypothyroidism. J Clin Endocrinol Metab 2001;86:4468-4471.
6. Pohlenz J, Dumitrescu A, Aumann U, Koch G, Melchior R., Prawitt D, Refetoff S: Congenital secondary hypothyroidism caused by exon skipping due to homozygous donor splice site mutation in the TSH β-subunit gene. J Clin Endocrinol Metab 2002;87:336-339.
7. Heinrichs C, Parma J, Scherberg NH, Delange F, Van Vliet G, Duprez L, Bourdoux P, Bergmann P, Vassart G, Refetoff S: Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSHβ subunit gene. Thyroid 2000;10:387-391.
8. Doeker B, Pfäffle R W, Pohlenz J, Andler W: Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin gene follows an autosomal recessive inheritance. Clin Endocrinol Metab 1998;83:1762-1765.
9. Brumm H, Pfeufer A, Biebermann H, Schnabel D, Deiss D, Gruters A: Congenital central hypothyroidism due to homozygous thyrotropin beta 313-delta-T mutation is caused by a founder effect. J Clin Endocrinol Metab 2002;87:4811-4816.
10. Deladoëy J, Vuissoz J-M, Domené HM, Malik N, Gruñeiro-Papendieck L, Chiesa A, Heinrich JJ, Mullis PE: Congenital secondary hypothyroidism due to C105fs114X TSHβ mutation: Genetic study of five unrelated families from Switzerland and Argentina. Thyroid 2003;13:553-559.
11. Collu R, Tang JQ, Castagné J, Lagacé G, Masson N, Huot C, Deal C, Delvin E, Faccenda E, Eidne KA, Van Vliet G: A novel mechanism for isolated central hypothyroidism: Inactivating mutation in the thyrotropin-releasing hormone receptor gene. J Clin Endocrinol Metab 1997;82:1361-1365.
12. Hayashizaki Y, Hiraoka Y, Tatsumi K, Hashimoto T, Furruyama J, Miyai K, Nishijo K, Matsuura M, Kohno H, Labbe A, Matsubara K: Desoxyribonucleic acid analyses of five families with familial inherited thyroid stimulating hormone deficiency. J Clin Endocrinol Metab 1990;71:792-796.
13. Dermott MC, Haugen BR, Black JN, Wood WM, Gordon DF, Ridgway EC: Case history: Congenital isolated central hypothyroidism caused by a 'hot spot' mutation in the thyrotropin-β gene. Thyroid 2002;12:1141-1146.
14. Pierce JG, Parsons TF: Glycoprotein hormones: Structure and function. Annu Rev Biochem 1981;50:465-495.
15. Lapthorn AJ, Harris DC, Littlejohn JW, Harres DC, Lustbader RE, Canfield KJ, Machin FJ, Morgan FJ, Isaacs NW: Crystal structure of human chorionic gonadotropin. Nature 1994;369:455-461.
16. Bucher H, Illig R: Intellectual school and occupational performance in patients with idiopathic hypothalamic hypopituitary hypothyroidism. Helv Pediactr Acta 1980;35:489-495.
17. Martino E, Barbalena L, Faglia G, Pinchera A: Central hypothyroidism; in Braverman LE, Utiger RD (eds): The Thyroid. Philadelphia, Lipincott-Raven, 1996, pp 778-781.
18. Ferretti E, Persani L, Jaffrain Rea ML, Giambona S, Tamburrano G, Beck-Peccoz P: Evaluation of the adequacy of levothyroxine replacement therapy in patients with central hypothyroidism. J Clin Endocrinol Metab 1999;84:924-929.