Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene

Clinical Endocrinology

Volumn 72, Issue 5, 2010, Pages 716-718

  Targovnik, Héctor M ^a   Souchon, Pierre F ^b   MacHiavelli, Gloria A ^a   Salmon Musial, Anne S ^b   Mauran, Pierre L A ^b   Sulmont, Véronique ^b   Doco Fenzy, Martine ^c   Rivolta, Carina M ^a  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^b AMERICAN MEMORIAL HOSPITAL   (France)

^c REIMS UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; LEVOTHYROXINE; LIOTHYRONINE; THYMINE; THYROGLOBULIN; THYROGLOBULIN ANTIBODY; THYROID PEROXIDASE; THYROXINE;

CASE REPORT; CHILD; CONGENITAL HYPOTHYROIDISM; ECHOGRAPHY; FEMALE; FREE LIOTHYRONINE INDEX; FREE THYROXINE INDEX; GENE LOCUS; GENETIC POLYMORPHISM; GOITER; HETEROZYGOSITY; HUMAN; LETTER; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; SCREENING TEST; THYROID SCINTISCANNING; THYROTROPIN BLOOD LEVEL;

BASE SEQUENCE; CONGENITAL HYPOTHYROIDISM; DNA MUTATIONAL ANALYSIS; FEMALE; GOITER; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; THYROGLOBULIN;

EID: 77950190427     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2009.03702.x     Document Type: Letter

References (5)

1. Rivolta, C.M. Targovnik, H.M. (2006) Molecular advances in thyroglobulin disorders. Clinica Chimica Acta, 374, 8 24.
2. Gutnisky, V.J., Moya, C.M., Rivolta, C.M. et al. (2004) Two distinct compound heterozygous constellation (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. Journal of Clinical Endocrinology and Metabolism, 89, 646 657.
3. Caputo, M., Rivolta, C.M., Gutnisky, V.J. et al. (2007) 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. Journal of Endocrinology, 195, 167 177.
4. Pardo, V., Vono-Toniolo, J., Rubio, I.G.S. et al. (2009) The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation. Journal of Clinical Endocrinology and Metabolism, 94, 2938 2944.
5. Machiavelli, G.A., Caputo, M., Rivolta, C.M. et al. (2009) Molecular analysis of congenital goiters 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. Clinical Endocrinology, in press. doi :.