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TG Gene Mutations and Congenital Hypothyroidism

This study has been completed.
Fundação de Amparo à Pesquisa do Estado de São Paulo
Information provided by:
University of Sao Paulo Identifier:
First received: June 25, 2007
Last updated: NA
Last verified: June 2007
History: No changes posted
The aim of this study was to identify mutations in the thyroglobulin gene that might be present in patients with fetal goiter and congenital goiter hypothyroidism.

Congenital Hypothyroidism

Study Type: Observational
Study Design: Primary Purpose: Screening
Time Perspective: Cross-Sectional
Time Perspective: Prospective
Official Title: Congenital Hypothyroidism Due to Thyroglobulin Mutations in an Inbred Brazilian Family: A Novel Compound Heterozygous Constellation and Intronic Mutation Related to Fetal Goiter.

Resource links provided by NLM:

Further study details as provided by University of Sao Paulo:

Study Start Date: July 2003
Study Completion Date: June 2007
Detailed Description:
Congenital goitrous hypothyroid is commonly linked to thyroglobulin (TG) gene mutations.We aim to identify mutations in the TG gene that might be present in patients with fetal goiter and congenital goiter hypothyroidism.Four related patients with congenital goiter hypothyroidism from an inbred family were studied.Recombinant human TSH stimulation test, DNA sequencing and protein computer analysis were performed.We identified a novel compound heterozygous constellation (IVS30+1G>T/A2215D) in two siblings. It was also identified a homozygous intronic mutation (IVS30+1G>T) in their cousins, one of them with fetal goiter. The mutation IVS30+1G>T promotes an aberrant splicing and loss of the entire exon 30 (138 nt) in the resulting messenger RNA. The recent described mutation A2215D is located in the ACHE-like domain, which functions as a dimerization domain, facilitating efficient intracellular transport of the protein. Protein computer analysis suggested that the A2215D mutation causes TG structural alterations.A novel compound heterozygous constellation (IVS30+1G>T/A2215D) and the previously described mutation (IVS30+1G>T) that cause severe congenital hypothyroidism due to defective TG synthesis have been identified. The mutation IVS30+1G>T may be related to fetal goiter and hypothyroidism due to TG instability and impaired TG export to the colloid. This study shows the efficiency of the use of rhTSH in the differential diagnosis of CH due to TG defective synthesis and the importance of molecular diagnosis of CH for possible intrauterine treatment, thereby avoiding damage to the neuropsychomotor system.

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Inclusion Criteria:

  • Patients with congenital hypothyroidism due to thyroglobulin defective synthesis.

Exclusion Criteria:

  • Patients with another disease.
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Please refer to this study by its identifier: NCT00493103

Sponsors and Collaborators
University of Sao Paulo
Fundação de Amparo à Pesquisa do Estado de São Paulo
Principal Investigator: Viviane Pardo University of São Paulo
Study Director: Geraldo Medeiros-Neto University of São Paulo
  More Information Identifier: NCT00493103     History of Changes
Other Study ID Numbers: PRN989/03
Study First Received: June 25, 2007
Last Updated: June 25, 2007

Keywords provided by University of Sao Paulo:
thyroglobulin gene
congenital hypothyroidism
gene mutations
fetal goiter
iodine nutrition

Additional relevant MeSH terms:
Congenital Hypothyroidism
Thyroid Diseases
Endocrine System Diseases
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Bone Diseases, Endocrine
Genetic Diseases, Inborn processed this record on September 21, 2017