WAGR SYNDROME

'WAGR syndrome' is a rare genetic syndrome in which affected children are predisposed to develop 'W'ilms tumor (a tumor of the kidneys), 'A'niridia (absence of the colored part of the eye, the iris), 'G'enitourinary anomalies, and mental 'R'etardation. WAGR syndrome: a clinical review of 54 cases, Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M, , , Pediatrics, 2005 The 'G' is sometimes instead given as "gonadoblastoma," since the genitourinary anomalies are tumors of the gonads (testes or ovaries). Management of Genetic Syndromes, Clericuzio CL, , , John Wiley & Sons, 2004, ISBN 0-471-30870-6

Contents

Synonyms

History

Pathophysiology

Clinical features and diagnosis

See also

References

External links

Synonyms

WAGR complex, Wilms tumor-aniridia syndrome, aniridia-Wilms tumor syndrome.

History

WAGR syndrome was first described by Miller ''et al''. Association of Wilms's tumor with aniridia, hemihypertrophy and other congenital malformations, Miller RW, Fraumeni JF, Manning MD, , , N Engl J Med, 1964
Deletion Chromosome 11p13

Pathophysiology

WAGR syndrome is caused by a mutation on chromosome 11 in the 11p13 region. WAGR syndrome Specifically, several genes in this area are deleted, including the PAX6 ocular development gene and the Wilms' tumor gene (WT1). PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects, Glaser T, Jepeal L, Edwards J, Young S, Favor J, Maas R, , , Nat Genet, 1994 Abnormalities in WT1 may also cause genitourinary anomalies. Mutations in the PAX6 gene have recently been shown to not only cause ocular abnormalities, but also problems in the brain and pancreas. PAX6 mutation as a genetic factor common to aniridia and glucose intolerance, Yasuda T, Kajimoto Y, Fujitani Y, Watada H, Yamamoto S, Watarai T, Umayahara Y, Matsuhisa M, Gorogawa S, Kuwayama Y, Tano Y, Yamasaki Y, Hori M, , , Diabetes, 2002 Polymicrogyria and absence of pineal gland due to PAX6 mutation, Mitchell T, Free S, Williamson K, Stevens J, Churchill A, Hanson I, Shorvon S, Moore A, van Heyningen V, Sisodiya S, , , Ann Neurol, 2003 Pax6 regulates regional development and neuronal migration in the cerebral cortex, Talamillo A, Quinn J, Collinson J, Caric D, Price D, West J, Hill R, , , Dev Biol, 2003

Clinical features and diagnosis

Newborn children with WAGR syndrome are soon noted to have aniridia. Not all children have aniridia with WAGR syndrome. The clinical suspicion for WAGR may be increased with the presence of other genital anomalies. It must be noted that genitourinary anomalies are not always present, particularly in girls. In older children, clinical diagnosis of the syndrome can be made when aniridia and one of the other features are present. It must be noted that while aniridia is rarely absent in WAGR syndrome, cases have been reported without it. Chromosomal analysis is necessary for definitive diagnosis. Del11p13/nephroblastoma without aniridia, Turleau C, de Grouchy J, Nihoul-Fékété C, Dufier J, Chavin-Colin F, Junien C, , , Hum Genet, 1984 Other common eye defects include cataracts and ptosis. About 50% of patients develop Wilms' tumor.

See also

★ Denys-Drash syndrome

References

External links

★ International WAGR Syndrome Association