title: 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.
authors: Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Kanagawa, Japan ; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors: Takeshi
authors: T
authors: Sato
authors: Koji
authors: K
authors: Muroya
authors: Junko
authors: J
authors: Hanakawa
authors: Yumi
authors: Y
authors: Asakura
authors: Eihiko
authors: E
authors: Takahashi
authors: Yoshiyuki
authors: Y
authors: Shiroyanagi
authors: Yuichiro
authors: Y
authors: Yamazaki
authors: Yukichi
authors: Y
authors: Tanaka
authors: Tomonobu
authors: T
authors: Hasegawa
authors: Masanori
authors: M
authors: Adachi
keywords: Graves’ disease; PAX2; mutation; renal coloboma syndrome
references: Am J Hum Genet. 1997 Apr;60(4):869-78
references: 9106533
references: Eur J Hum Genet. 2000 Nov;8(11):820-6
references: 11093271
references: Nephrology (Carlton). 2006 Feb;11(1):42-8
references: 16509931
references: Appl Immunohistochem Mol Morphol. 2010 Jul;18(4):323-32
references: 20216401
references: Klin Monbl Augenheilkd. 1977 May;170(5):697-706
references: 894968
references: Mol Immunol. 2009 Mar;46(6):1140-8
references: 19118900
references: Eur J Pediatr. 1991 Apr;150(6):395-9
references: 2040346
references: Hum Mutat. 2012 Mar;33(3):457-66
references: 22213154
references: Lupus. 2012 May;21(6):625-31
references: 22323338
references: Pediatr Nephrol. 2012 Oct;27(10):1989-93
references: 22660956
references: Hum Mol Genet. 2011 Jan 15;20(2):223-34
references: 20943750
references: J Clin Ultrasound. 1990 Jul-Aug;18(6):455-62
references: 2162852
references: Clin Genet. 1999 Jul;56(1):1-9
references: 10466411
references: Am J Med Genet. 2001 Mar 1;99(2):137-41
references: 11241473
references: Autoimmunity. 2009 Aug;42(5):406-13
references: 19811257