ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 1 Year: 2024
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Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2016; 8(1): 21-25 | DOI: 10.4274/jcrpe.2456

Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis

Shiguo Liu1, Jian Chai2, Guohua Zheng3, Huichao Li4, Deguo Lu5, Yinlin Ge2
1The Affiliated Hospital of Qingdao University, Prenatal Diagnosis Center, Qingdao, China
2Qingdao University Faculty of Medicine, Department of Biochemistry and Molecular Biology, Qingdao, China
3Weifang Maternal and Children Health’s Hospital, Weifang, China
4The Affiliated Hospital of Qingdao University, Department of Thyroid Surgery, Qingdao, China
5Linyi People’s Hospital, Department of Clinical Laboratory, Shandong, China

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.
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.
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.
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.

Keywords: congenital hypothyroidism,thyroid dysgenesis,HHEX,mutation

Shiguo Liu, Jian Chai, Guohua Zheng, Huichao Li, Deguo Lu, Yinlin Ge. Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis. J Clin Res Pediatr Endocrinol. 2016; 8(1): 21-25
Manuscript Language: English
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