Article
Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect.
Clinical endocrinology - 1 Aug 2007
Rivolta Carina M, Louis-Tisserand Mariana, Varela Viviana, Gruñeiro-Papendieck Laura, Chiesa Ana, González-Sarmiento Rogelio, Targovnik Héctor M
Abstract excerpt
BACKGROUND: Iodide organification defects are frequently but not always associated with mutations in the thyroid peroxidase (TPO) gene and characterized by a positive perchlorate discharge test. These mutations phenotypically produce a congenital goitrous hypothyroidism, with an autosomal recessive mode of inheritance. OBJECTIVES: In the present study we extended our initial molecular studies in six unrelated...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Congenital Hypothyroidism
- Female
- Genes, Recessive
- Heterozygote
- Humans
- Iodide Peroxidase
- Iodides
- Membrane Proteins
- Molecular Sequence Data
- Mutation