Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis.

Abstract

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.

SUBJECTS AND 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.

CONCLUSION:

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.

• Authors: Frouzandeh Mahjoubi, Mona Malek Mohammadi, Maryam Montazeri, Masoud Aminii, Mahin Hashemipour
• Journal: Arquivos brasileiros de endocrinologia e metabologia (Arq Bras Endocrinol Metabol) Vol. 54 Issue 6 Pg. 555-9 (Aug 2010) ISSN: 1677-9487 [Electronic] Brazil
• PMID: 20857061 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• PAX8 Transcription Factor
• PAX8 protein, human
• Paired Box Transcription Factors

Topics

• Cohort Studies
• Congenital Hypothyroidism (etiology, genetics)
• Exons (genetics)
• Hot Temperature
• Humans
• Infant, Newborn
• Iran
• Mutation (genetics)
• PAX8 Transcription Factor
• Paired Box Transcription Factors (genetics)
• Polymerase Chain Reaction
• Polymorphism, Single-Stranded Conformational
• Sequence Analysis, DNA
• Thyroid Dysgenesis (genetics)