Genetic testing of PAX8 mutations associated with thyroid dysgenesis in Chinese congenital hypothyroidism patients
نویسندگان
چکیده
منابع مشابه
A De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis.
BACKGROUND Thyroid dysgenesis (TD) is the most frequent cause of congenital hypothyroidism (CH), but its pathogenesis remains unclear. As a thyroid transcription factor, paired box transcription factor 8 (PAX8) is essential for thyroid organogenesis and development. AIM To screen PAX8 mutations and characterize the features of these mutations in Chinese TD patients. MATERIALS AND METHODS Bl...
متن کاملMutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis.
OBJECTIVE Congenital hypothyroidism (CH) may be caused by defects in the thyroid or in one of the stages in the synthesis of thyroid hormones. Thyroid dysgenesis may be associated with mutation in the paired box transcription factor 8 (PAX8) gene. We attempted to screen PAX8 gene mutation in 50 CH patients with thyroid dysgenesis. SUBJECTS AND METHODS The patients were classified in two group...
متن کاملIdentification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population
OBJECTIVE Based on mutations in PAX8 is associated with thyroid dysgenesis. We aim to identify and characterize PAX8 mutations in a large cohort of congenital hypothyroidism(CH) from thyroid dysgenesis in Chinese population. METHODS We screened 453 unrelated Chinese patients with CH from thyroid dysgenesis for PAX8 mutations by sequencing the whole coding regions of PAX8 on genomic DNA isolat...
متن کاملScreening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis
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 a...
متن کاملCongenital and Juvenile Hypothyroidism Due to Thyroid Dysgenesis.
Following the initial description of an ectopic thyroid by Verneuil, ( 1 ) it remained only as an anatomical curiosity for many years. Hunt ( 2 ) described dysphagia and obstruction of the upper larynx caused by a lingual thyroid and suggested the clinical importance of this entity. Mont gomery ( 3 ) has reviewed most of the reported cases, and observed that surgi cal ablation of the ectopic ti...
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ژورنال
عنوان ژورنال: Endokrynologia Polska
سال: 2020
ISSN: 2299-8306,0423-104X
DOI: 10.5603/ep.a2020.0004