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TG Gene Mutations and Congenital Hypothyroidism

NCT ID: NCT00493103

Last Updated: 2007-06-27

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Study Classification

OBSERVATIONAL

Study Start Date

2003-07-31

Study Completion Date

2007-06-30

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Congenital Hypothyroidism

Keywords

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thyroglobulin gene congenital hypothyroidism gene mutations fetal goiter iodine nutrition

Study Design

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Study Time Perspective

OTHER

Eligibility Criteria

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Inclusion Criteria

* Patients with congenital hypothyroidism due to thyroglobulin defective synthesis.

Exclusion Criteria

* Patients with another disease.
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Fundação de Amparo à Pesquisa do Estado de São Paulo

OTHER_GOV

Sponsor Role collaborator

University of Sao Paulo

OTHER

Sponsor Role lead

Principal Investigators

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Viviane Pardo

Role: PRINCIPAL_INVESTIGATOR

University of Sao Paulo

Geraldo Medeiros-Neto

Role: STUDY_DIRECTOR

University of Sao Paulo

Other Identifiers

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PRN989/03

Identifier Type: -

Identifier Source: org_study_id