Document Detail

Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations.
MedLine Citation:
PMID:  18631008     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Thyroglobulin (Tg) is a large glycoprotein that is intimately involved in the biosynthesis of thyroxine and triiodothyronine. At least 38 mutations have been described in the Tg gene that are associated with varying degrees of hypothyroidism. We studied the Tg gene in four related subjects with congenital hypothyroidism. SUMMARY: We found a novel compound heterozygous constellation (IVS30 + 1G>T/A2215D) in a brother and sister and one previously described related mutation (IVS30+1G>T) in their two sibling second degree cousins. The brother with the IVS30 + 1G>T/A2215D mutation and the two siblings with the IVS30+1G>T mutation had fetal or neonatal goiter and all had hypothyroidism. CONCLUSIONS: This study further confirms the association of the IVS30+G>T mutation of the Tg gene with hypothyroidism. Computer analysis predicts that the A2215D mutation, first reported here, should cause structural instability of Tg but when present as a compound heterozygous mutation with IVS30+G>T/A its effect is unclear but is likely to be influenced by iodine intake.
Viviane Pardo; Ileana G S Rubio; Meyer Knobel; Manoel H Aguiar-Oliveira; Marcos M Santos; Simone A Gomes; Carla R P Oliveira; Hector M Targovnik; Geraldo Medeiros-Neto
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Thyroid : official journal of the American Thyroid Association     Volume:  18     ISSN:  1050-7256     ISO Abbreviation:  Thyroid     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-07-17     Completed Date:  2008-10-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9104317     Medline TA:  Thyroid     Country:  United States    
Other Details:
Languages:  eng     Pagination:  783-6     Citation Subset:  IM    
Thyroid Study Unit (LIM-25), Division of Endocrinology, University of São Paulo Medical School, São Paulo, Brazil.
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MeSH Terms
Child, Preschool
Congenital Hypothyroidism / blood,  genetics*
Mutation / genetics*
Thyroglobulin / blood,  genetics*
Thyrotropin / blood
Thyroxine / blood
Triiodothyronine / blood
Reg. No./Substance:
6893-02-3/Triiodothyronine; 7488-70-2/Thyroxine; 9002-71-5/Thyrotropin; 9010-34-8/Thyroglobulin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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