Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis.
OBJECTIVE
Congenital hypothyroidism (CH) may be caused by defects in the thyroid or in one of the stages in the synthesis of thyroid hormones. Thyroid dysgenesis may be associated with mutation in the paired box transcription factor 8 (PAX8) gene. We attempted to screen PAX8 gene mutation in 50 CH patients with thyroid dysgenesis.


METHODS
The patients were classified in two groups as agenesis and ectopic based on biochemical and para clinical tests. By employing PCR, Single Strand Conformation Polymorphism (SSCP) and sequencing, exons 3 to 12 of PAX8 gene with their exon-intron boundaries were studied.


RESULTS
No mutation was found in these patients in any of the exons.


CONCLUSIONS
Our results, once again, indicate that the PAX8 mutation rate is very low and can only explain a minority of the cases. Therefore, it is highly needed to further investigate the genes controlling development and function of thyroid.
Mahjoubi
Frouzandeh
F
Clinical Genetic Department, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran. frouz@nigeb.ac.ir
Mohammadi
Mona Malek
MM
Montazeri
Maryam
M
Aminii
Masoud
M
Hashemipour
Mahin
M
D015331:Cohort Studies; D003409:Congenital Hypothyroidism / Q000209:etiology / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006358:Hot Temperature; D006801:Humans; D007231:Infant, Newborn; D007492:Iran; D009154:Mutation / Q000235:genetics*; D000072636:PAX8 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D050033:Thyroid Dysgenesis / Q000235:genetics*
D000072636:PAX8 Transcription Factor; C083325:PAX8 protein, human; D051761:Paired Box Transcription Factors