Congenital goiter with hypothyroidism caused by a 5′ splice site mutation in the thyroglobulin gene

Thyroid

Volumn 11, Issue 7, 2001, Pages 685-690

  Targovnik, H́ctor M ^a   Rivolta, Carina M ^a   Mendive, Fernando M ^a   Moya, Christian M ^a   Vono, Jussara ^b   Medeiros Neto, Geraldo ^b  

^a HOSPITAL DE CLÍNICAS JOSÉ DE SAN MARTÍN   (Argentina)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

IODINE; MESSENGER RNA; THYROGLOBULIN; THYROID HORMONE;

ADULT; ARTICLE; CASE REPORT; EXON; GENE DELETION; GENE MAPPING; GENE MUTATION; GOITER; HORMONE RELEASE; HORMONE SYNTHESIS; HUMAN; HYPOTHYROIDISM; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA PROCESSING; SEQUENCE ANALYSIS; THYROXINE BLOOD LEVEL;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA, COMPLEMENTARY; DNA, RECOMBINANT; EXONS; GENOME; GOITER; HUMANS; HYPOTHYROIDISM; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; THYROGLOBULIN;

EID: 0034920875     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/105072501750362763     Document Type: Article

References (20)

1. Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism
2. Genomic organization of the 3′ region of the human thyroglobulin gene
3. A 3′ splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism
4. A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger
5. Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism
6. A premature stopcodon in the thyroglobulin mRNA results in familial goiter and moderate hypothyroidism
7. 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
8. A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis
9. Genomic organization of the 5′ region of the human thyroglobulin gene
10. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
11. A circulating biologically inactive thyrotropin caused by a mutation in the beta subunit gene
12. Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1
13. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
14. Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene
15. Pendred's syndrome and genetic defects in thyroid hormone synthesis
16. An endoplasmic reticulum storage diseases causing congenital goiter with hypothyroidism
17. Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones
18. Consensus sequences for early iodination and hormonogenesis in human thyroglobulin
19. The effect of oral administration of iodine to patients with goiter and hypothyroidism due to defective synthesis of thyroglobulin
20. Euthyroidism via iodine supplementation in hereditary congenital goiter in goats with thyroglobulin deficiency