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Disease Report for: Goiter, familial with hypothyroidism, autosomal recessive


Alternative name(s)|Genetic defect in thyroid hormogenesis III
Thyroglobulin synthesis defect
Gene_locus|human-TG
Mutation|94 mutations (e.g. : A1727HfsX26_human-TG, A1773D_human-TG, A2234D_human-TG... more)
OMIM: |188450, 274700

Comment
(from OMIM) De Vijlder et al. (1983) described a presumably autosomal dominant form of hereditary congenital goiter in a mother and 4 of her 8 children. Goiter was present in other members of the mother's family. Thyroglobulin was found to be reduced in the thyroid (17 mg/g thyroid tissue; normal value = 50) and was more negatively charged than normal, as shown by isoelectric focusing and DEAE-cellulose chromatography. In the family with hereditary congenital hypothyroidism due to a defect in the synthesis and structure of thyroglobulin (de Vijlder et al., 1983), cosegregation of the rare defect and the polymorphism indicated that the hypothyroidism was caused by a mutation in the structural gene for thyroglobulin. Furthermore, the findings seem to indicate that the defect, in this family at least, is autosomal dominant, not recessive as usually thought. Van Ommen (1987) pointed out that the defects in the TG gene can cause either dominant or recessive disorders depending on the nature of the defect. When the gene is absent or at least when no thyroglobulin is synthesized, the disorder is likely to be recessive, whereas the presence of an abnormal subunit leads to a dominantly inherited disorder. The explanation for this is that in a dimeric protein such as thyroglobulin, 75% of the dimers in heterozygotes will contain 1 or more abnormal subunits. This should profoundly disturb thyroglobulin metabolism, since this protein fulfills a dual storage/catalytic role as a dimer, is present in bulk quantities (100 mg Tg/g thyroid mass), and needs to be exocytosed, iodinated, endocytosed, and degraded.

References
    Title: Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement
    Mizokami T, Fukata S, Kogai T, Hishinuma A, Hamada K, Maruta T, Higashi K, Tajiri J
    Ref: Intern Med, 58:2669, 2019 : PubMed

            

    Title: Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene
    Lo MS, Towne M, VanNoy GE, Brownstein CA, Lane AA, Chatila TA, Agrawal PB
    Ref: J Autoimmun, 86:116, 2018 : PubMed

            

    Title: Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism
    Siffo S, Adrover E, Citterio CE, Miras MB, Balbi VA, Chiesa A, Weill J, Sobrero G, Gonzalez VG and Targovnik HM <4 more author(s)>
    Ref: Mol Cell Endocrinol, 473:1, 2018 : PubMed

            

    Title: A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report
    Watanabe Y, Sharwood E, Goodwin B, Creech MK, Hassan HY, Netea MG, Jaeger M, Dumitrescu A, Refetoff S and Weiss RE <1 more author(s)>
    Ref: BMC Med Genet, 19:69, 2018 : PubMed

            

    Title: Single nucleotide polymorphism 1623 A/G (rs180195) in the promoter of the Thyroglobulin gene is associated with autoimmune thyroid disease but not with thyroid ophthalmopathy
    Lahooti H, Edirimanne S, Walsh JP, Delbridge L, Hibbert EJ, Wall JR
    Ref: Clin Ophthalmol, 11:1337, 2017 : PubMed

            

    Title: Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation
    Vasudevan P, Powell C, Nicholas AK, Scudamore I, Greening J, Park SM, Schoenmakers N
    Ref: Endocrinol Diabetes Metab Case Rep, 2017:, 2017 : PubMed

            

    Title: Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism
    Hu X, Chen R, Fu C, Fan X, Wang J, Qian J, Yi S, Li C, Luo J and Shen Y <9 more author(s)>
    Ref: Mol Cell Endocrinol, 423:60, 2016 : PubMed

            

    Title: Against all odds: blended phenotypes of three single-gene defects
    Li Y, Salfelder A, Schwab KO, Grunert SC, Velten T, Lutjohann D, Villavicencio-Lorini P, Matysiak-Scholze U, Zabel B and Lausch E <1 more author(s)>
    Ref: Eur J Hum Genet, 24:1274, 2016 : PubMed

            

    Title: Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability
    Mittal K, Rafiq MA, Rafiullah R, Harripaul R, Ali H, Ayaz M, Aslam M, Naeem F, Amin-Ud-Din M and Ayub M <4 more author(s)>
    Ref: J Hum Genet, 61:867, 2016 : PubMed

            

    Title: Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5' splice site in the exon 6
    Citterio CE, Morales CM, Bouhours-Nouet N, Machiavelli GA, Bueno E, Gatelais F, Coutant R, Gonzalez-Sarmiento R, Rivolta CM, Targovnik HM
    Ref: Mol Cell Endocrinol, 404:102, 2015 : PubMed

            

    Title: Thyroglobulin from Molecular and Cellular Biology to Clinical Endocrinology
    Di Jeso B, Arvan P
    Ref: Endocr Rev, :er20151090, 2015 : PubMed

            

    Title: Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism
    Cangul H, Boelaert K, Dogan M, Saglam Y, Kendall M, Barrett TG, Maher ER
    Ref: Endocrine, 45:206, 2014 : PubMed

            

    Title: Congenital hypothyroidism caused by a novel homozygous mutation in the thyroglobulin gene
    Agretti P, De Marco G, Di Cosmo C, Ferrarini E, Montanelli L, Bagattini B, Vitti P, Tonacchera M
    Ref: Eur J Pediatr, 172:959, 2013 : PubMed

            

    Title: New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism
    Citterio CE, Machiavelli GA, Miras MB, Gruneiro-Papendieck L, Lachlan K, Sobrero G, Chiesa A, Walker J, Munoz L and Targovnik HM <4 more author(s)>
    Ref: Mol Cell Endocrinol, 365:277, 2013 : PubMed

            

    Title: Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism
    Citterio CE, Rossetti LC, Souchon PF, Morales C, Thouvard-Viprey M, Salmon-Musial AS, Mauran PL, Doco-Fenzy M, Gonzalez-Sarmiento R and Targovnik HM <2 more author(s)>
    Ref: Mol Cell Endocrinol, 381:220, 2013 : PubMed

            

    Title: A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies
    Hermanns P, Refetoff S, Sriphrapradang C, Pohlenz J, Okamato J, Slyper L, Slyper AH
    Ref: J Pediatr Endocrinol Metab, 26:119, 2013 : PubMed

            

    Title: Dominant protein interactions that influence the pathogenesis of conformational diseases
    Wright J, Wang X, Haataja L, Kellogg AP, Lee J, Liu M, Arvan P
    Ref: J Clinical Investigation, 123:3124, 2013 : PubMed

            

    Title: Congenital hypothyroidism mutations affect common folding and trafficking in the alpha/beta-hydrolase fold proteins
    De Jaco A, Dubi N, Camp S, Taylor P
    Ref: Febs J, 279:4293, 2012 : PubMed

            

    Title: Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19
    Targovnik HM, Edouard T, Varela V, Tauber M, Citterio CE, Gonzalez-Sarmiento R, Rivolta CM
    Ref: Mol Cell Endocrinol, 348:313, 2012 : PubMed

            

    Title: A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism
    Citterio CE, Coutant R, Rouleau S, Miralles Garcia JM, Gonzalez-Sarmiento R, Rivolta CM, Targovnik HM
    Ref: Clinical Endocrinology (Oxf), 74:533, 2011 : PubMed

            

    Title: Thyroglobulin gene mutations in congenital hypothyroidism
    Targovnik HM, Citterio CE, Rivolta CM
    Ref: Horm Res Paediatr, 75:311, 2011 : PubMed

            

    Title: Analysis of thyroglobulin gene polymorphisms in patients with autoimmune thyroiditis
    Caputo M, Rivolta CM, Mories T, Corrales JJ, Galindo P, Gonzalez-Sarmiento R, Targovnik HM, Miralles-Garcia JM
    Ref: Endocrine, 37:389, 2010 : PubMed

            

    Title: Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7
    Machiavelli GA, Caputo M, Rivolta CM, Olcese MC, Gruneiro-Papendieck L, Chiesa A, Gonzalez-Sarmiento R, Targovnik HM
    Ref: Clinical Endocrinology (Oxf), 72:112, 2010 : PubMed

            

    Title: New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter
    Peteiro-Gonzalez D, Lee J, Rodriguez-Fontan J, Castro-Piedras I, Cameselle-Teijeiro J, Beiras A, Bravo SB, Alvarez CV, Hardy DM and Lado-Abeal J <2 more author(s)>
    Ref: J Clinical Endocrinology Metab, 95:3522, 2010 : PubMed

            

    Title: Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma
    Raef H, Al-Rijjal R, Al-Shehri S, Zou M, Al-Mana H, Baitei EY, Parhar RS, Al-Mohanna FA, Shi Y
    Ref: J Clinical Endocrinology Metab, 95:1000, 2010 : PubMed

            

    Title: Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations
    Targovnik HM, Esperante SA, Rivolta CM
    Ref: Mol Cell Endocrinol, 322:44, 2010 : PubMed

            

    Title: Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene
    Targovnik HM, Souchon PF, Machiavelli GA, Salmon-Musial AS, Mauran PL, Sulmont V, Doco-Fenzy M, Rivolta CM
    Ref: Clinical Endocrinology (Oxf), 72:716, 2010 : PubMed

            

    Title: Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis
    Niu DM, Hsu JH, Chong KW, Huang CH, Lu YH, Kao CH, Yu HC, Lo MY, Jap TS
    Ref: J Clinical Endocrinology Metab, 94:5045, 2009 : PubMed

            

    Title: The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation
    Pardo V, Vono-Toniolo J, Rubio IG, Knobel M, Possato RF, Targovnik HM, Kopp P, Medeiros-Neto G
    Ref: J Clinical Endocrinology Metab, 94:2938, 2009 : PubMed

            

    Title: Defective protein folding and intracellular retention of thyroglobulin-R19K mutant as a cause of human congenital goiter
    Kim PS, Lee J, Jongsamak P, Menon S, Li B, Hossain SA, Bae JH, Panijpan B, Arvan P
    Ref: Mol Endocrinol, 22:477, 2008 : PubMed

            

    Title: Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations
    Pardo V, Rubio IG, Knobel M, Aguiar-Oliveira MH, Santos MM, Gomes SA, Oliveira CR, Targovnik HM, Medeiros-Neto G
    Ref: Thyroid, 18:783, 2008 : PubMed

            

    Title: Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene
    Caputo M, Rivolta CM, Esperante SA, Gruneiro-Papendieck L, Chiesa A, Pellizas CG, Gonzalez-Sarmiento R, Targovnik HM
    Ref: Clinical Endocrinology (Oxf), 67:351, 2007 : PubMed

            

    Title: Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms
    Caputo M, Rivolta CM, Gutnisky VJ, Gruneiro-Papendieck L, Chiesa A, Medeiros-Neto G, Gonzalez-Sarmiento R, Targovnik HM
    Ref: J Endocrinol, 195:167, 2007 : PubMed

            

    Title: Clinical case seminar: metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene
    Alzahrani AS, Baitei EY, Zou M, Shi Y
    Ref: J Clinical Endocrinology Metab, 91:740, 2006 : PubMed

            

    Title: Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan
    Hishinuma A, Fukata S, Nishiyama S, Nishi Y, Oh-Ishi M, Murata Y, Ohyama Y, Matsuura N, Kasai K and Ieiri T <10 more author(s)>
    Ref: J Clinical Endocrinology Metab, 91:3100, 2006 : PubMed

            

    Title: A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation
    Rivolta CM, Moya CM, Gutnisky VJ, Varela V, Miralles-Garcia JM, Gonzalez-Sarmiento R, Targovnik HM
    Ref: J Clinical Endocrinology Metab, 90:3766, 2005 : PubMed

            

    Title: Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis
    Gutnisky VJ, Moya CM, Rivolta CM, Domene S, Varela V, Toniolo JV, Medeiros-Neto G, Targovnik HM
    Ref: J Clinical Endocrinology Metab, 89:646, 2004 : PubMed

            

    Title: Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism
    Vono-Toniolo J, Kopp P
    Ref: Arq Bras Endocrinol Metabol, 48:70, 2004 : PubMed

            

    Title: Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease
    Ban Y, Greenberg DA, Concepcion E, Skrabanek L, Villanueva R, Tomer Y
    Ref: Proc Natl Acad Sci U S A, 100:15119, 2003 : PubMed

            

    Title: Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism
    Caron P, Moya CM, Malet D, Gutnisky VJ, Chabardes B, Rivolta CM, Targovnik HM
    Ref: J Clinical Endocrinology Metab, 88:3546, 2003 : PubMed

            

    Title: Identification and characterization of a novel large insertion/deletion polymorphism of 1464 base pair in the human thyroglobulin gene
    Moya CM, Varela V, Rivolta CM, Mendive FM, Targovnik HM
    Ref: Thyroid, 13:319, 2003 : PubMed

            

    Title: Analysis of Tg transcripts by real-time RT-PCR in the blood of thyroid cancer patients
    Savagner F, Rodien P, Reynier P, Rohmer V, Bigorgne JC, Malthiery Y
    Ref: J Clinical Endocrinology Metab, 87:635, 2002 : PubMed

            

    Title: Monoallelic deletion in the 5' region of the thyroglobulin gene as a cause of sporadic nonendemic simple goiter
    Gonzalez-Sarmiento R, Corral J, Mories MT, Corrales JJ, Miguel-Velado E, Miralles-Garcia JM
    Ref: Thyroid, 11:789, 2001 : PubMed

            

    Title: Congenital goiter with hypothyroidism caused by a 5' splice site mutation in the thyroglobulin gene
    Targovnik HM, Rivolta CM, Mendive FM, Moya CM, Vono J, Medeiros-Neto G
    Ref: Thyroid, 11:685, 2001 : PubMed

            

    Title: Up to date with human thyroglobulin
    van de Graaf SA, Ris-Stalpers C, Pauws E, Mendive FM, Targovnik HM, de Vijlder JJ
    Ref: J Endocrinol, 170:307, 2001 : PubMed

            

    Title: A missense mutation G2320R in the thyroglobulin gene causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat
    Kim PS, Ding M, Menon S, Jung CG, Cheng JM, Miyamoto T, Li B, Furudate S, Agui T
    Ref: Mol Endocrinol, 14:1944, 2000 : PubMed

            

    Title: Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter
    Hishinuma A, Takamatsu J, Ohyama Y, Yokozawa T, Kanno Y, Kuma K, Yoshida S, Matsuura N, Ieiri T
    Ref: J Clinical Endocrinology Metab, 84:1438, 1999 : PubMed

            

    Title: Expression of the Na+/I- symporter gene in human thyroid tumors: a comparison study with other thyroid-specific genes
    Lazar V, Bidart JM, Caillou B, Mahe C, Lacroix L, Filetti S, Schlumberger M
    Ref: J Clinical Endocrinology Metab, 84:3228, 1999 : PubMed

            

    Title: A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism
    van de Graaf SA, Ris-Stalpers C, Veenboer GJ, Cammenga M, Santos C, Targovnik HM, de Vijlder JJ, Medeiros-Neto G
    Ref: J Clinical Endocrinology Metab, 84:2537, 1999 : PubMed

            

    Title: A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog/cog mouse: a model of human endoplasmic reticulum storage diseases
    Kim PS, Hossain SA, Park YN, Lee I, Yoo SE, Arvan P
    Ref: Proc Natl Acad Sci U S A, 95:9909, 1998 : PubMed

            

    Title: Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism
    Targovnik HM, Frechtel GD, Mendive FM, Vono J, Cochaux P, Vassart G, Medeiros-Neto G
    Ref: Thyroid, 8:291, 1998 : PubMed

            

    Title: Prenatal diagnosis and treatment of dyshormonogenetic fetal goiter due to defective thyroglobulin synthesis
    Medeiros-Neto G, Bunduki V, Tomimori E, Gomes S, Knobel M, Martin RT, Zugaib M
    Ref: J Clinical Endocrinology Metab, 82:4239, 1997 : PubMed

            

    Title: Thyroglobulin exon 10 gene point mutation in a patient with endemic goiter
    Perez-Centeno C, Gonzalez-Sarmiento R, Mories MT, Corrales JJ, Miralles-Garcia JM
    Ref: Thyroid, 6:423, 1996 : PubMed

            

    Title: A variant of adenomatous goiter with characteristic histology and possible hereditary thyroglobulin abnormality
    Yoshida S, Takamatsu J, Kuma K, Murakami Y, Sakane S, Katayama S, Tarutani O, Ohsawa N
    Ref: J Clinical Endocrinology Metab, 81:1961, 1996 : PubMed

            

    Title: A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis
    Targovnik HM, Vono J, Billerbeck AE, Cerrone GE, Varela V, Mendive F, Wajchenberg BL, Medeiros-Neto G
    Ref: J Clinical Endocrinology Metab, 80:3356, 1995 : PubMed

            

    Title: Molecular genetics of hereditary thyroid diseases due to a defect in the thyroglobulin or thyroperoxidase synthesis
    Targovnik HM, Varela V, Frechtel GD, Cerrone GE, Copelli SB, Propato FV, Mendive F
    Ref: Brazilian Journal of Medical & Biological Research, 27:2745, 1994 : PubMed

            

    Title: Thyroglobulin gene point mutation associated with non-endemic simple goitre
    Corral J, Martin C, Perez R, Sanchez I, Mories MT, San Millan JL, Miralles JM, Gonzalez-Sarmiento R
    Ref: Lancet, 341:462, 1993 : PubMed

            

    Title: A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger
    Targovnik HM, Medeiros-Neto G, Varela V, Cochaux P, Wajchenberg BL, Vassart G
    Ref: J Clinical Endocrinology Metab, 77:210, 1993 : PubMed

            

    Title: Identification of a splicing mutation responsible for a human hereditary goiter with hypothyroidism. (Abstract)
    Cochaux P, Ieiri T, Targovnik H, Suzuki M, Shimoda SI, Perret J, Vassart G
    Ref: American Journal of Human Genetics, 49 (suppl.):131 , 1991 : PubMed

            

    Title: A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism
    Ieiri T, Cochaux P, Targovnik HM, Suzuki M, Shimoda S, Perret J, Vassart G
    Ref: J Clinical Investigation, 88:1901, 1991 : PubMed

            

    Title: Mutant gene-induced disorders of structure, function and thyroglobulin synthesis in congenital goitre (cog/cog) in mice
    Adkison LR, Taylor S, Beamer WG
    Ref: J Endocrinol, 126:51, 1990 : PubMed

            

    Title: Differential levels of thyroid peroxidase and thyroglobulin messenger ribonucleic acids in congenital goiter with defective thyroglobulin synthesis
    Targovnik HM, Varela V, Juvenal GJ, Propato F, Chester HA, Krawiec L, Frechtel G, Moran DH, Perinetti HA, Pisarev MA
    Ref: J Endocrinol Invest, 13:797, 1990 : PubMed

            

    Title: Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis
    Targovnik H, Propato F, Varela V, Wajchenberg B, Knobel M, D'Abronzo HF, Medeiros-Neto G
    Ref: J Clinical Endocrinology Metab, 69:1137, 1989 : PubMed

            

    Title: Inherited congenital goiter in mice
    Beamer WG, Maltais LJ, DeBaets MH, Eicher EM
    Ref: Endocrinology, 120:838, 1987 : PubMed

            

    Title: Autosomal recessive inheritance of goiter in Dutch goats
    Kok K, van Dijk JE, Sterk A, Baas F, van Ommen GJ, de Vijlder JJ
    Ref: Journal of Heredity, 78:298, 1987 : PubMed

            

    Title: Primary structure of human thyroglobulin deduced from the sequence of its 8448-base complementary DNA
    Malthiery Y, Lissitzky S
    Ref: European Journal of Biochemistry, 165:491, 1987 : PubMed

            

    Title: Structural organization of the 5' region of the thyroglobulin gene. Evidence for intron loss and exonization during evolution
    Parma J, Christophe D, Pohl V, Vassart G
    Ref: Journal of Molecular Biology, 196:769, 1987 : PubMed

            

    Title: A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts
    Ricketts MH, Simons MJ, Parma J, Mercken L, Dong Q, Vassart G
    Ref: Proc Natl Acad Sci U S A, 84:3181, 1987 : PubMed

            

    Title: The congenital goiter mutation is linked to the thyroglobulin gene in the mouse
    Taylor BA, Rowe L
    Ref: Proc Natl Acad Sci U S A, 84:1986, 1987 : PubMed

            

    Title: Merging autosomal dominance and recessivity
    Van Ommen GB
    Ref: American Journal of Human Genetics, 41:689, 1987 : PubMed

            

    Title: The human thyroglobulin gene is over 300 kb long and contains introns of up to 64 kb
    Baas F, van Ommen GJ, Bikker H, Arnberg AC, de Vijlder JJ
    Ref: Nucleic Acids Research, 14:5171, 1986 : PubMed

            

    Title: Mapping of human thyroglobulin gene on the long arm of chromosome 8 by in situ hybridization
    Avvedimento VE, Di Lauro R, Monticelli A, Bernardi F, Patracchini P, Calzolari E, Martini G, Varrone S
    Ref: Hum Genet, 71:163, 1985 : PubMed

            

    Title: The human thyroglobulin gene: a polymorphic marker localized distal to C-MYC on chromosome 8 band q24
    Baas F, Bikker H, Geurts van Kessel A, Melsert R, Pearson PL, de Vijlder JJ, van Ommen GJ
    Ref: Hum Genet, 69:138, 1985 : PubMed

            

    Title: Localization of the thyroglobulin gene by in situ hybridization to human chromosomes
    Berge-Lefranc JL, Cartouzou G, Mattei MG, Passage E, Malezet-Desmoulins C, Lissitzky S
    Ref: Hum Genet, 69:28, 1985 : PubMed

            

    Title: The thyroglobulin gene resides on chromosome 8 in man and on chromosome 7 in the rat
    Brocas H, Szpirer J, Lebo RV, Levan G, Szpirer C, Cheung MC, Vassart G
    Ref: Cytogenet Cell Genet, 39:150, 1985 : PubMed

            

    Title: Chromosomal localization of a unique gene by non-autoradiographic in situ hybridization
    Landegent JE, Jansen in de Wal N, van Ommen GJ, Baas F, de Vijlder JJ, van Duijn P, Van der Ploeg M
    Ref: Nature, 317:175, 1985 : PubMed

            

    Title: Defective splicing of thyroglobulin gene transcripts in the congenital goitre of the Afrikander cattle
    Ricketts MH, Pohl V, de Martynoff G, Boyd CD, Bester AJ, Van Jaarsveld PP, Vassart G
    Ref: EMBO Journal, 4:731, 1985 : PubMed

            

    Title: Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele
    Baas F, Bikker H, van Ommen GJ, de Vijlder JJ
    Ref: Hum Genet, 67:301, 1984 : PubMed

            

    Title: Chromosome mapping and polymorphism study of the human thyroglobulin gene. (Abstract)
    Van Ommen G-JB, Baas F, Arnberg AC, Pearson PL, De Vijlder JJM
    Ref: Cytogenet Cell Genet, 37:562, 1984 : PubMed

            

    Title: Inherited disorders of thyroid metabolism
    Lever EG, Medeiros-Neto GA, DeGroot LJ
    Ref: Endocr Rev, 4:213, 1983 : PubMed

            

    Title: Autosomal dominant inheritance of a thyroglobulin abnormality suggests cooperation of sub-units in hormone formation
    De Vijlder JJM, Baas F, Koch CAM, Kok K, Gons M
    Ref: Ann Endocrinol (Paris), 44:36, 1983 : PubMed

            

    Title: Abnormal cellular localization of thyroglobulin mRNA associated with hereditary congenital goiter and thyroglobulin deficiency
    Van Voorthuizen WF, Dinsart C, Flavell RA, DeVijlder JJ, Vassart G
    Ref: Proc Natl Acad Sci U S A, 75:74, 1978 : PubMed

            

    Title: Defective thyroglobulin export as a cause of congenital goitre
    Lissitzky S, Torresani J, Burrow GN, Bouchilloux S, Chabaud O
    Ref: Clinical Endocrinology (Oxf), 4:363, 1975 : PubMed

            

    Title: A goitrous subject with structural abnormality of thyroglobulin
    Kusakabe T
    Ref: J Clinical Endocrinology Metab, 35:785, 1972 : PubMed

            

    Title: Studies on the congenitally goitrous sheep. Iodoproteins of the goitre
    Falconer IR, Roitt IM, Seamark RF, Torrigiani G
    Ref: Biochemical Journal, 117:417, 1970 : PubMed

            

    Title: Familial goiter with diminished synthesis of thyroglobulin.
    Riddick FAJr, Desai KB, Murison PJ, Stanbury JB
    Ref: J Exp Med, 150:203, 1969 : PubMed

            

    Title: Congenital goiter with hypothyroidism and iodo-serum albumin replacing thyroglobulin
    Lissitzky S, Codaccioni JL, Bismuth J, Depieds R
    Ref: J Clinical Endocrinology Metab, 27:185, 1967 : PubMed

            

    Title: THYROIDAL IODOPROTEINS IN PATIENTS WITH GOITROUS HYPOTHYROIDISM
    Michel R, Rall JE, Roche J, Tubiana M
    Ref: J Clinical Endocrinology Metab, 24:352, 1964 : PubMed

            

    Title: Goitre and cretinism due to the production of an abnormal iodinated thyroid compound
    McGirr EM, Hutchison JH, Clement WE, Kennedy JS, Currie AR
    Ref: Scot. Med. J, 5:189, 1960 : PubMed

            


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