Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect. 2010

Solange Caires Neves, and Paola Rossi Mezalira, and Vera M A Dias, and Antonio J Chagas, and Maria Viana, and Hector Targovnik, and Meyer Knobel, and Geraldo Medeiros-Neto, and Ileana G S Rubio
Thyroid Unit, Cellular and Molecular Endocrinology Laboratory, Faculdade de Medicina da Universidade de São Paulo, SP, Brazil.

The aim of this study was to identify the genetic defect of a patient with dyshormonogenetic congenital hypothyroidisms (CH) with total iodide organification defect (TIOD). A male child diagnosed with CH during neonatal screening. Laboratory tests confirmed the permanent and severe CH with TIOD (99% perchlorate release). The coding sequence of TPO, DUOX2, and DUOXA2 genes and 2957 base pairs (bp) of the TPO promoter were sequenced. Molecular analysis of patient's DNA identified the heterozygous duplication GGCC (c.1186_1187insGGCC) in exon 8 of the TPO gene. No additional mutation was detected either in the TPO gene, TPO promoter, DUOX2 or DUOXA2 genes. We have described a patient with a clear TIOD causing severe goitrous CH due to a monoallelic TPO mutation. A plausible explanation for the association between an autosomal recessive disorder with a single TPO-mutated allele is the presence of monoallelic TPO expression.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007453 Iodide Peroxidase A hemeprotein that catalyzes the oxidation of the iodide radical to iodine with the subsequent iodination of many organic compounds, particularly proteins. EC 1.11.1.8. Iodinase,Iodothyronine 5'-Deiodinase,Iodothyronine Deiodinase,Iodotyrosine Deiodase,Thyroid Peroxidase,Thyroxine 5'-Deiodinase,Thyroxine 5'-Monodeiodinase,5'-Deiodinase,Deiodinase,Iodotyrosine Deiodinase,Monodeiodinase,Reverse Triiodothyronine 5'-Deiodinase,T4-5'-Deiodinase,T4-Monodeiodinase,Tetraiodothyronine 5'-Deiodinase,Thyroxine Converting Enzyme,Triiodothyronine Deiodinase,5' Deiodinase,5'-Deiodinase, Iodothyronine,5'-Deiodinase, Reverse Triiodothyronine,5'-Deiodinase, Tetraiodothyronine,5'-Deiodinase, Thyroxine,5'-Monodeiodinase, Thyroxine,Deiodase, Iodotyrosine,Deiodinase, Iodothyronine,Deiodinase, Iodotyrosine,Deiodinase, Triiodothyronine,Enzyme, Thyroxine Converting,Iodothyronine 5' Deiodinase,Peroxidase, Iodide,Peroxidase, Thyroid,Reverse Triiodothyronine 5' Deiodinase,T4 5' Deiodinase,T4 Monodeiodinase,Tetraiodothyronine 5' Deiodinase,Thyroxine 5' Deiodinase,Thyroxine 5' Monodeiodinase,Triiodothyronine 5'-Deiodinase, Reverse
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D003409 Congenital Hypothyroidism A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA. Cretinism,Myxedema, Congenital,Endemic Cretinism,Fetal Iodine Deficiency Disorder,Cretinism, Endemic,Hypothyroidism, Congenital
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000483 Alleles Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. Allelomorphs,Allele,Allelomorph
D001324 Autoantigens Endogenous tissue constituents with the ability to interact with AUTOANTIBODIES and cause an immune response. Autoantigen,Autologous Antigen,Autologous Antigens,Self-Antigen,Self-Antigens,Antigen, Autologous,Antigens, Autologous,Self Antigen,Self Antigens
D017422 Sequence Analysis, DNA A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis. DNA Sequence Analysis,Sequence Determination, DNA,Analysis, DNA Sequence,DNA Sequence Determination,DNA Sequence Determinations,DNA Sequencing,Determination, DNA Sequence,Determinations, DNA Sequence,Sequence Determinations, DNA,Analyses, DNA Sequence,DNA Sequence Analyses,Sequence Analyses, DNA,Sequencing, DNA
D033862 Iron-Binding Proteins Proteins that specifically bind to IRON. Iron-Binding Protein,Iron Binding Protein,Iron Binding Proteins,Protein, Iron-Binding

Related Publications

Solange Caires Neves, and Paola Rossi Mezalira, and Vera M A Dias, and Antonio J Chagas, and Maria Viana, and Hector Targovnik, and Meyer Knobel, and Geraldo Medeiros-Neto, and Ileana G S Rubio
July 2003, The Journal of clinical endocrinology and metabolism,
Solange Caires Neves, and Paola Rossi Mezalira, and Vera M A Dias, and Antonio J Chagas, and Maria Viana, and Hector Targovnik, and Meyer Knobel, and Geraldo Medeiros-Neto, and Ileana G S Rubio
July 1994, The Journal of clinical endocrinology and metabolism,
Solange Caires Neves, and Paola Rossi Mezalira, and Vera M A Dias, and Antonio J Chagas, and Maria Viana, and Hector Targovnik, and Meyer Knobel, and Geraldo Medeiros-Neto, and Ileana G S Rubio
February 1999, The Journal of endocrinology,
Solange Caires Neves, and Paola Rossi Mezalira, and Vera M A Dias, and Antonio J Chagas, and Maria Viana, and Hector Targovnik, and Meyer Knobel, and Geraldo Medeiros-Neto, and Ileana G S Rubio
December 2003, Thyroid : official journal of the American Thyroid Association,
Solange Caires Neves, and Paola Rossi Mezalira, and Vera M A Dias, and Antonio J Chagas, and Maria Viana, and Hector Targovnik, and Meyer Knobel, and Geraldo Medeiros-Neto, and Ileana G S Rubio
April 1972, The Journal of clinical endocrinology and metabolism,
Solange Caires Neves, and Paola Rossi Mezalira, and Vera M A Dias, and Antonio J Chagas, and Maria Viana, and Hector Targovnik, and Meyer Knobel, and Geraldo Medeiros-Neto, and Ileana G S Rubio
March 2002, The Journal of endocrinology,
Solange Caires Neves, and Paola Rossi Mezalira, and Vera M A Dias, and Antonio J Chagas, and Maria Viana, and Hector Targovnik, and Meyer Knobel, and Geraldo Medeiros-Neto, and Ileana G S Rubio
January 1979, Clinical endocrinology,
Solange Caires Neves, and Paola Rossi Mezalira, and Vera M A Dias, and Antonio J Chagas, and Maria Viana, and Hector Targovnik, and Meyer Knobel, and Geraldo Medeiros-Neto, and Ileana G S Rubio
January 2015, Endocrine research,
Solange Caires Neves, and Paola Rossi Mezalira, and Vera M A Dias, and Antonio J Chagas, and Maria Viana, and Hector Targovnik, and Meyer Knobel, and Geraldo Medeiros-Neto, and Ileana G S Rubio
August 2003, Clinical endocrinology,
Solange Caires Neves, and Paola Rossi Mezalira, and Vera M A Dias, and Antonio J Chagas, and Maria Viana, and Hector Targovnik, and Meyer Knobel, and Geraldo Medeiros-Neto, and Ileana G S Rubio
July 1983, American journal of veterinary research,
Copied contents to your clipboard!