Objectives: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder in infancy. The aim of this study was to screen for reported gene mutations among CH patients in our hospital and to illustrate a genetic mutation spectrum of CH in China.
Methods: We designed a gene panel consisting of more than 20 relevant genes including TSHR and DUOX2. Blood samples were collected from 60 CH patients and their parents in Childrens Hospital of Fudan University, China. Genomic DNA was extracted from peripheral blood leukocytes. All exons of the gene were screened by next-generation sequencing (NGS) and Sanger sequencing was performed to detect the gene mutations.
Results: 27(45%) of 60 CH patients revealed clear gene mutations of DUOX2, TSHR, DUOXA2, GNAS and TG. Of them, 16 (59.3%)patients had mutations in DUOX2 gene, 6(22.2%) patients had mutations in TSHR gene, 2(7.4%) patients had mutations in GNAS gene, 2(7.4%) patient had mutations in DUOXA2 gene, 1 (3.7%)patient had mutations in TG gene. The other 33 CH patients were not found clear mutations so far.
Conclusions: Our study indicated that with our own designed CH gene panel, we screened out 45% CH patients and in our cohort of CH, DUOX2 and TSHR gene mutations were the most common genetic causes of CH.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology