Thyroid dysgenesis caused by PAX8 mutation: the hypermutability with CpG dinucleotides at codon 31.
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.
Komatsu
M
M
Department of Pediatrics, Akita University School of Medicine, Akita, Japan.
Takahashi
T
T
Takahashi
I
I
Nakamura
M
M
Takahashi
I
I
Takada
G
G
D000328:Adult; D002648:Child; D003062:Codon / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000097:blood / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics*; D009687:Nuclear Proteins; D000072636:PAX8 Transcription Factor; D051761:Paired Box Transcription Factors; D016133:Polymerase Chain Reaction; D013954:Thyroglobulin / Q000097:blood; D013959:Thyroid Diseases / Q000097:blood / Q000151:congenital* / Q000235:genetics*; D013972:Thyrotropin / Q000097:blood; D013974:Thyroxine / Q000097:blood; D015534:Trans-Activators / Q000235:genetics*; D014284:Triiodothyronine / Q000097:blood
D003062:Codon; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D000072636:PAX8 Transcription Factor; C083325:PAX8 protein, human; D051761:Paired Box Transcription Factors; D015534:Trans-Activators; D014284:Triiodothyronine; D013972:Thyrotropin; D013954:Thyroglobulin; D013974:Thyroxine