A De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis

作者：Zou, Hui; Chai, Jian; Liu, Shiguo; Zang, Hongwei; Yu, Xiaoxia; Tian, Liping; Li, Huichao^*; Han, Bingjuan

来源：International Journal of Clinical and Experimental Pathology, 2015, 8(9): 11434-11439.

• Congenital hypothyroidism
• PAX8
• thyroid dysgenesis
• de novo mutation

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: Blood samples were collected from 63 TD patients in Shandong Province, China, and genomic DNA was extracted from peripheral blood leukocytes. Exon 3 similar to 4 of PAX8 were analyzed by PCR and direct sequencing. Results: Direct sequencing of PAX8 revealed a heterozygous missense mutation (c.155G/C, P.Arg52Pro) in one child with agenesis. Genetic screening of the child's family revealed that the clinically unaffected parents do not carry the mutation, suggesting that the identified sequence change is a de novo mutation. Conclusion: We report a heterozygous missense de novo mutation in PAX8 in one out of 63 unrelated Chinese TD patients, showing that the PAX8 mutation rate is very low in TD patients in China. However, de novo mutation and epigenetic mechanisms need to be considered in the future study.

• 出版日期2015
• 单位山东大学; 青岛大学