Association between graves' disease and renal coloboma syndrome: a case report.

ABSTRACT: Renal coloboma syndrome is an autosomal dominant condition characterized by renal lesions and optic nerve abnormalities. We report an 11-yr-old Japanese girl with familial renal coloboma syndrome, who also had Graves' disease. Four affected family members had a previously reported heterozygous mutation (c.76dupG, p.Val26Glyfs*28) in the PAX2 gene. We hypothesized that PAX2 mutations may increase the risk of autoimmune diseases through alterations of human β-defensin 1 expression.

SUBMITTER: Sato T 

PROVIDER: S-EPMC3748283 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature