Novel missense mutation in PTPN22 in a Chinese pedigree with Hashimoto's thyroiditis.

ABSTRACT:

Background

Hashimoto's thyroiditis is a complex autoimmune thyroid disease, the onset of which is associated with environmental exposures and specific susceptibility genes. Its incidence in females is higher than its incidence in males. Thus far, although some susceptibility loci have been elaborated, including PTPN22, FOXP3, and CD25, the aetiology and pathogenesis of Hashimoto's thyroiditis remains unclear.

Methods

Four affected members from a Chinese family with Hashimoto's thyroiditis were selected for whole-exome sequencing. Missense, nonsense, frameshift, or splicing-site variants shared by all affected members were identified after frequency filtering against public and internal exome databases. Segregation analysis was performed by Sanger sequencing among all members

SUBMITTER: Gong L 

PROVIDER: S-EPMC6211547 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature