Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis.

Abstract

OBJECTIVES:

To precisely classify the various forms of TD, and then to screen for mutations in transcription factor genes active in thyroid development.

SUBJECTS AND METHODS:

Patients underwent ultrasound, thyroid scan, and serum thyroglobulin measurement to accurately diagnose the form of TD. DNA was extracted from peripheral leukocytes. The PAX8, and NKX2.5 genes were evaluated in all patients, and TSH receptor (TSHR) gene in those with hypoplasia.

RESULTS:

In 27 nonconsanguineous patients with TD, 13 were diagnosed with ectopia, 11 with hypoplasia, and 3 with athyreosis. No mutations were detected in any of the genes studied.

CONCLUSION:

Sporadic cases of TD are likely to be caused by epigenetic factors, rather than mutations in thyroid transcription factors or genes involved in thyroid development.

• Authors: Ester S Brust, Cristine B Beltrao, Maria C Chammas, Tomoco Watanabe, Marcelo T Sapienza, Suemi Marui
• Journal: Arquivos brasileiros de endocrinologia e metabologia (Arq Bras Endocrinol Metabol) Vol. 56 Issue 3 Pg. 173-7 (Apr 2012) ISSN: 1677-9487 [Electronic] Brazil
• PMID: 22666732 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Homeobox Protein Nkx-2.5
• Homeodomain Proteins
• NKX2-5 protein, human
• PAX8 Transcription Factor
• PAX8 protein, human
• Paired Box Transcription Factors
• Transcription Factors
• Thyrotropin

Topics

• Adolescent
• Child
• Child, Preschool
• Congenital Hypothyroidism (genetics)
• Female
• Homeobox Protein Nkx-2.5
• Homeodomain Proteins (genetics)
• Humans
• Male
• Mutation
• PAX8 Transcription Factor
• Paired Box Transcription Factors (genetics)
• Thyroid Dysgenesis (diagnosis, genetics)
• Thyrotropin (genetics)
• Transcription Factors (genetics)
• Young Adult