Thyroid dysgenesis caused by PAX8 mutation: the hypermutability with CpG dinucleotides at codon 31.
case_report · Level V
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- Record sourced from PubMed, PMID 11598612.
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Abstract
We identified a novel mutation (CGC to T GC) at codon 31 of the Paired box 8 gene, an important transcription factor in the development of the thyroid gland. Mutations at this codon have been independently reported in 2 cases (CGC to CA C). These transitions are considered typical CpG-consequence mutations and account for hypermutability at this position.
Medical subject headings
- Codon
- DNA-Binding Proteins
- Mutation, Missense
- Nuclear Proteins
- Thyroid Diseases
- Trans-Activators