SavedAdd your journal

Journals / Journal of Clinical Research in Pediatric Endocrinology / 2016 / Cilt: 8 - Sayı: 1

Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis

Shiguo LİU
Jian CHAİ
Guohua ZHENG
Huichao Lİ
LU Deguo
Yinlin GE
Pages
21–25
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

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.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Objective: Congenital hypothyroidism (CH) is a frequent neonatal endocrine disease with an incidence of about 1:2500 worldwide.
📊
Key Findings & Data:The aim of this study was to screen the hematopoieticallyexpressedhomeobox 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.
💡
Conclusion & Impact: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.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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 hematopoieticallyexpressedhomeobox 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

🔖

Cite This Article

LİU, S., CHAİ, J., ZHENG, G., Lİ, H., Deguo, L., GE, Y. (2016). Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis. Journal of Clinical Research in Pediatric Endocrinology, Cilt: 8 - Sayı: 1, 21–25. https://ajindex.com/articles/212639

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (9)

  1. Rastogi MV, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis 2010;5:17. De Felice M, Di Lauro R. Thyroid development and its disorders: genetics and molecular mechanisms. Endocr Rev 2004;25:722-746.
  2. Nettore IC, Cacace V, De Fusco C, Colao A, Macchia PE. The molecular causes of thyroid dysgenesis: a systematic review. J Endocrinol Invest 2013;36:654-664. Epub 2013 May 22 Morgutti M, Demori E, Pecile V, Amoroso A, Rustighi A, Manfioletti G. Genomic organization and chromosome mapping of the human homeobox gene HHEX. Cytogenet Cell Genet 2001;94:30-32.
  3. Crompton MR, Bartlett TJ, MacGregor AD, Manfioletti G, Buratti E, Giancotti V, Goodwin GH. Identification of a novel vertebrate homeobox gene expressed in haematopoietic cells. Nucleic Acids Res 1992;20:5661-5667.
  4. Thomas PQ, Brown A, Beddington RS. Hex: a homeobox gene revealing peri-implantation asymmetry in the mouse embryo and an early transient marker of endothelial cell precursors. Development 1998;125:85-94.
  5. Liu SG, Zhang SS, Zhang LQ, Li WJ, Zhang AQ, Lu KN, Wang MJ, Yan SL, Ma X Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism. J Endocrinol Invest 2012;35:889-892. Epub 2012 Jan 31 Mauchamp J, Mirrione A, Alquier C, Andre F. Follicle-like structure and polarized monolayer: role of the extracellular matrix on thyroid cell organization in primary culture. Biol Cell 1998;90:369-380.
  6. Deng XP, Zhao LX, Wang BB, Wang J, Cheng LF, Cheng Z, Suo PS, Li H, Ma X. The HHEX gene is not related to congenital heart disease in 296 Chinese patients. World J Pediatr 2013;9:278-280. Epub 2013 Aug 9 Elsalini OA, von Gartzen J, Cramer M, Rohr KB. Zebrafish hhex, nk2.1a, and pax2.1 regulate thyroid growth and differentiation downstream of Nodal-dependent transcription factors. Dev Biol 2003;263:67-80.
  7. Fagman H, Nilsson M. Morphogenesis of the thyroid gland. Mol Cell Endocrinol 2010;323:35-54. Epub 2009 Dec 21 Puppin C, D'Elia AV, Pellizzari L, Russo D, Arturi F, Presta I, Filetti S, Bogue CW, Denson LA, Damante G. Thyroid-specific transcription factors control Hex promoter activity. Nucleic Acids Res 2003;31:1845-1852.
  8. Puppin C, Presta I, D'Elia AV, Tell G, Arturi F, Russo D, Filetti S, Damante G. Functional interaction among thyroid-specific transcription factors: Pax8 regulates the activity of Hex promoter. Mol Cell Endocrinol 2004;214:117-125.
  9. Di Palma T, Nitsch R, Mascia A, Nitsch L, Di Lauro R, Zannini M. The paired domain-containing factor Pax8 and the homeodomain-containing fac