Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes

European Journal of Human Genetics - Tập 13 Số 2 - Trang 232-239 - 2005
Mireille Castanet1,2, Sylvia Sura‐Trueba1,2, Anne Chauty1,2, Aurore Carré1,2, Nicolás de Roux3,4, Simon Heath5, Juliane Léger2,6, Stanislas Lyonnet7, Paul Czernichow2,6, Michel Polak1,2,8
1INSERM EMI 0363, Hôpital Necker-Enfants Malades, Paris, France
2INSERM U457, Hôpital Robert Debré, Paris, France
3Department of Hormonology and Molecular Biology, Hôpital de Bicêtre, Le Kremlin-Bicêtre, France
4INSERM U584, Hôpital Necker-Enfants Malades, Paris, France
5National Center of Genotyping (CNG), Evry, France
6Pediatric Endocrine Unit, Hôpital Robert Debré, Paris, France
7INSERM U393, Hôpital Necker-Enfants Malades, Paris, France
8Pediatric Endocrine Unit, Hôpital Necker-Enfants Malades, Paris, France

Tóm tắt

Từ khóa


Tài liệu tham khảo

Fisher DA : Second International Conference on Neonatal Thyroid Screening: progress report. J Pediatr 1983; 102: 653–654.

Van der Gaag RD, Drexhage HA, Dussault JH : Role of maternal immunoglobulins blocking TSH-induced thyroid growth in sporadic forms of congenital hypothyroidism. Lancet 1985; 1: 246–250.

Miyai K, Connely JF, Foley TP et al: An analysis of the variation of incidence of congenital dysgenetic hypothyroidism in various countries. Endocrinol Japon 1984; 31: 77–81.

Hall SK, Hutchesson ACJ, Kirk JM : Congenital hypothyroidism, seasonality and consanguinity in the West Midlands, England. Acta Pediatr 1999; 88: 212–215.

Working Group on Congenital Hypothyroidism of European Society for Paediatric Endocrinology: Epidemiological Inquiry on Congenital Hypothyroidism in Europe. Horm Res 1990; 34: 1–3.

Reijneveld SA, Verkerk PH : No evidence of seasonality of congenital hypothyroidism in the Netherlands. Acta Pediatr 1993; 82: 212–213.

Ainger LE, Kelley VC : Familial athyreotic cretinism: report of 3 cases. J Clin Endocrinol Metab 1955; 15: 469–475.

Greig WR, Henderson AS, Boyle JA, McGirr EM, Hutchison JH : Thyroid dysgenesis in two pairs of monozygotic twins and in a mother and child. J Clin Endocrinol Metab 1966; 26: 1309–1316.

Bamforth JS, Hugues IA, Lazarus JH, Weaver CM, Harper PS : Congenital hypothyroidism, spiky hair, and cleft palate. J Med Genet 1989; 26: 49–51.

Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C : Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest 1997; 99: 3018–3024.

Biebermann H, Schöneberg T, Krude H, Schultz G, Gudermann T, Grüters A : Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. J Clin Endocrinol Metab 1997; 82: 3471–3480.

Macchia PE, Lapi P, Krude H et al: Pax8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet 1998; 19: 83–86.

Castanet M, Lyonnet S, Bonaïti-Pellié C, Polak M, Czernichow P, Léger J : Familial forms of thyroid dysgenesis among infants with congenital hypothyroidism. N Engl J Med 2000; 343: 441–442.

Castanet M, Polak M, Bonaïti-Pellié C, Lyonnet S, Czernichow P, Léger J : Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab 2001; 86: 2009–2014.

Kimura S, Hara Y, Pineau T et al: The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, and ventral forebrain. Genes Dev 1996; 10: 60–69.

Kimura S, Ward JM, Minoo P : Thyroid-specific enhancer-binding protein/thyroid transcription factor 1 is not required for the initial specification of the thyroid and lung primordia. Biochimie 1999; 81: 321–327.

De Felice M, Ovitt C, Biffali E et al: A mouse model for hereditary thyroid dysgenesis and cleft palate. Nat Genet 1998; 19: 399–401.

Mansouri A, Chowdhury K, Gruss P : Follicular cells of the thyroid gland require Pax8 gene function. Nat Genet 1998; 19: 87–90.

Beamer WJ, Eicher EM, Maltais LJ, Southard JL : Inherited primary hypothyroidism in mice. Science 1981; 212: 61–63.

Gagne N, Parma J, Deal C, Vassart G, Van Vliet G : Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: Are athyreosis and ectopic thyroid distinct entities ? J Clin Endocrinol Metab 1998; 83: 1771–1775.

Tonacchera M, Agretti P, Pinchera A et al: Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene. J Clin Endocrinol Metab 2000; 85: 1001–1008.

Bretones P, Duprez L, Parma J, David M, Vassart G, Rodien P : A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene. Thyroid 2002; 11: 977–980.

Congdon T, Nguyen LQ, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P : 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 2001; 86: 3962–3967.

Komatsu M, Takahashi T, Takahashi I, Nakamura M, Takahashi I, Takada G : Thyroid dysgenesis caused by PAX8 mutation: The hypermutability with CpG dinucleotides at codon 31. J Pediatr 2001; 139: 597–599.

Vilain C, Rydlewski C, Duprez L et al: Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of Pax8. J Clin Endocrinol Metab 2001; 86: 234–238.

Clifton-Bligh RJ, Wentworth JM, Heinz P et al: Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat Genet 1998; 19: 399–401.

Castanet M, Park SM, Smith A et al: A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis, and cleft palate. Hum Mol Genet 2002; 11: 2051–2059.

Krude H, Schuetz B, Biebermann H et al: Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2.1 haploinsufficiency. J Clin Invest 2002; 109: 475–480.

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: 469–473.

Perry R, Heinrichs C, Bourdoux P et al: Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology. J Clin Endocrinol Metab 2002; 87: 4072–4077.

Léger J, Marinovic D, Garel C, Bonaïti-Pellié C, Polak M, Czernichow P : Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism. J Clin Endocrinol Metab 2002; 87: 575–580.

Weissenbach J, Gyapay G, Dib C, Vignal A et al: A second-generation linkage map of the human genome. Nature 1992; 359: 794–801.

De Roux N, Misrahi M, Chatelain N, Gross B, Milgrom E : Microsatellites and PCR primers for genetic studies and genomic sequencing of the human TSH receptor gene. Mol Cell Endocrinol 1996; 117: 253–256.

Lathrop GM, Lalouel JM, Ott J : Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984; 81: 3443–3446.

Damante G, Tell G, Di Lauro R : A unique combination of transcription factors controls differentiation of thyroid cells. Prog Nucleic Acid Res 2000; 66: 307–356.

Kimura S : Role of the thyroid-specific enhancer-binding protein in transcription, development and differentiation. Eur J Endocrinol 1997; 136: 128–136.

Van der Kallen CJH, Spierings DCJ, Thijssen JHH, Blankenstein MA, de Bruin TWA : Disrupted co-ordination of Pax8 and thyroid transcription factor-1gene expression in a dedifferentiated rat thyroid tumour cell line derived from FRTL-5. J Endocrinol 1996; 150: 377–382.

Pasca Di Magliano M, Di Lauro R, Zannini M : Pax8 has a key in thyroid cell differentiation. Proc Natl Acad Sci USA 2000; 97: 13144–13149.

Vassart G, Dumont JE : The thyrotropin receptor and the regulation of thyrocyte function and growth. Endocr Rev 1992; 13: 596–611.

Perrone L, Di Magliano MP, Zannini M, Di Lauro R : The thyroid transcription factor 2 (TTF-2) is a promoter-specific DNA-binding independent transcriptional repressor. Biochem Biophys Res Commun 2000; 275: 203–208.

Macchia PE, de Felice M, Rosica AM et al: Thyroid dysgenesis is a multigenic disease. The Endocrine Society 2002, [P1-604].

Lints TJ, Parsons LM, Hartley L, Lyons I, Harvey RP : Nkx2.5: a novel murine homeobox gene expressed in early heart progenitor cells and their myogenic descendants. Development 1993; 119: 419–431.

Manley N, Capecchi M : Hox group 3 paralogs regulate the development and migration of the thymus, thyroid, and parathyroid glands. Dev Biol 1998; 195: 1–15.

Manley N, Capecchi M : The role of Hoxa-3 in mouse thymus and thyroid development. Dev 1995; 121: 1989–2003.

Martinez Barbera JP, Clements M, Thomas P et al: The homeobox gene Hex is required in definitive endodermal tissues for normal forebrain, liver and thyroid formation. Developement 2000; 127: 2433–2445.

Pellizzari L, D'Elia A, Rustighi A, Manfioletti G, Tell G, Damante G : Expression and function of the homeodomain-containing protein Hex in thyroid cells. Nucleic Acids Res 2000; 28: 2503–2511.

Ang SL, Rossant J : HNF3b is essential for node and notochord formation in mouse development. Cell 1994; 78: 561–574.

Xu PX, Zheng W, Laclef C et al: Eya1 is required for the morphogenesis of mammalian thymus, parathyroid and thyroid. Development 2002; 129: 3033–3044.

Guazzi S, Lonigro R, Pintonello L, Boncinelli E, Di Lauro R, Mavilio F : The thyroid transcription factor-1 gene is a candidate target for regulation by Hox protein. EMBO J 1994; 13: 3339–3347.

Ikeda K, Shaw-White JR, Wert SE, Whitsett JA : Hepatocyte nuclear factor 3 activates transcription of thyroid transcription factor 1 in respiratory epithelial cells. Mol Cell Biol 1996; 16: 3626–3636.

Shaw-White JR, Bruno MD, Whitsett JA : GATA-6 activates transcription of thyroid transcription factor-1. J Biol Chem 1999; 274: 2658–2664.

Tanaka M, Chen Z, Bartunkova S, Yamasaki N, Izumo S : The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development. Development 1999; 126: 1269–1280.

Devos H, Rodd C, Gagne N, Laframboise R, Van Vliet G : A search for the possible molecular mechanisms of thyroid dysgenesis: sex ratios and associated malformations. J Clin Endocrinol Metab 1999; 84: 2502–2506.

Olivieri A, Stazi MA, Mastroiacovo P et al: A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism (1991–1998). J Clin Endocrinol Metab 2002; 87: 557–562.

Pauws E, Moreno JC, Tijssen M, Baas F, de Vijlder JJM, Ris-Stalpers C : Serial analysis of gene expression as a tool to assess the human thyroid expression profile and to identify novel thyroidal genes. J Clin Endocrinol Metab 2000; 85: 1923–1927.