Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis.

Authors :: Liu S
Chai J
Zheng G
Li H
Lu D
Ge Y
Source :: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2016 Mar 05; Vol. 8 (1), pp. 21-5. Date of Electronic Publication: 2015 Dec 18.
Publication Year :: 2016
Abstract: Objective: Congenital hypothyroidism (CH) is a frequent neonatal endocrine disease with an incidence of about 1:2500 worldwide. Although thyroid dysgenesis (TD) is the most frequent cause of CH cases, its pathogenesis remains unclear. The aim of this study was to screen the hematopoietically-expressedhomeobox gene (HHEX) mutations in Chinese children with TD.<br />Methods: Genomic deoxyribonucleic acid was extracted from peripheral blood leukocytes in 234 TD patients from Shandong Province. Mutations in all exons and nearby introns of HHEX were analyzed by direct sequencing after polymerase chain reaction amplification.<br />Results: Sequencing analysis of HHEX indicated that no causative mutations were present in the coding regionof the TD patients. However, a genetic variant (IVS2+ 127 G/T, 10.26%) was observed in the intron 2 in HHEX.<br />Conclusion: Our results indicate that the frequency of HHEX mutation is very low and may not be the main causative factor in Chinese TD patients. However, these results need to be replicated using larger datasets collected from different populations.