ArticleJournal of clinical research in pediatric endocrinology2016
Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis.
Article in Journal of clinical research in pediatric endocrinology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- A new case of Rafiq syndrome with coexisting thyroid dyshormonogenesis type 6 in a Chinese patient: case report and literature review.Frontiers in endocrinology · 2025Review
- The Haematopoietically-expressed homeobox transcription factor: roles in development, physiology and disease.Frontiers in immunology · 2023Review
- Hematopoietically expressed homeobox gene is associated with type 2 diabetes in KK Cg-AExperimental and therapeutic medicine · 2018Article
- The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.European journal of endocrinology · 2018Article
- [Advances in genetic research of congenital hypothyroidism in China].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Review
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveCongenital 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.
methodsGenomic 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.
resultsSequencing 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.
conclusionOur 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.
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