ArticleJournal of endocrinological investigation2012
Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism.
Article in Journal of endocrinological investigation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- The molecular causes of thyroid dysgenesis: a systematic review.Journal of endocrinological investigation · 2013Pooled it
- Molecular Genetics of Primary Congenital Hypothyroidism: Established and Emerging Contributors to Thyroid Dysgenesis.International journal of molecular sciences · 2025Review
- A patient with congenital hypothyroidism due to aClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2022Article
- Identification and functional characterization of a novelClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2020Article
- Novel non-synonymous mutations of PAX8 in a cohort of Chinese with congenital hypothyroidism.Chinese medical journal · 2019Article
- [Advances in genetic research of congenital hypothyroidism in China].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Review
- The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH.Endocrine connections · 2017Article
- Resistance to thyrotropin.Best practice & research. Clinical endocrinology & metabolism · 2017Review
- Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population.Oncotarget · 2017Article
- Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.Thyroid : official journal of the American Thyroid Association · 2016Article
- Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis.Journal of clinical research in pediatric endocrinology · 2016Article
- A De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis.International journal of clinical and experimental pathology · 2015Article
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital hypothyroidism (CH) is a neonatal endocrine disease with an incidence of 1:2000 to 1:4000 worldwide. In about 85% of patients CH is secondary to thyroid dysgenesis, but its pathogenesis remains unclear. Thyroid transcription factors, such as paired box transcription factor 8 (PAX8), play an important role in thyroid organogenesis and development.
aimTo screen PAX8 mutations in Chinese CH patients and characterize the features of PAX8 mutations in China. MATERIALS AND
methodsBlood samples were collected from 300 CH patients in Shandong Province, China, and genomic DNA was extracted from peripheral blood leukocytes. Using PCR and direct sequencing, exon 3 and exon 4 of PAX8 were analyzed.
resultsAnalysis of PAX8 in 300 CH patients revealed heterozygous missense mutations or variations in two unrelated patients; one was a known missense mutation G92A, resulting in an arginine to histidine substitution at codon 31, the other was a missense variation G122T, resulting in the substitution of a glycine at position 41 by a valine residue. The patient with the R31H mutation had CH with thyroid hypoplasia, while the patient with the G41V variation had CH with a eutopic and normal-sized thyroid gland.
conclusionWe report a heterozygous missense mutation and a variation in PAX8 in two out of 300 unrelated Chinese CH patients, showing that the PAX8 mutation rate is very low in CH patients in China.
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