Association between Graves' disease and renal coloboma syndrome: A case report

Takeshi Sato, Koji Muroya, Junko Hanakawa, Yumi Asakura, Eihiko Takahashi, Yoshiyuki Shiroyanagi, Yuichiro Yamazaki, Yukichi Tanaka, Tomonobu Hasegawa, Masanori Adachi

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)45-51
Number of pages7
Journalclinical pediatric endocrinology
Issue number3
Publication statusPublished - 2013


  • Graves' disease
  • Mutation
  • PAX2
  • Renal coloboma syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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