WAGR syndrome

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WAGR syndrome

OMIM | 194072
DiseasesDB | 14025
eMedicine | ped/2423
MeSH | D017624

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: WAGR complex; Wilms tumor-aniridia syndrome; aniridia-Wilms tumor syndrome; Wilms tumor - aniridia - genitourinary anomalies - mental retardation

## Overview[edit | edit source]

WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor (a tumor of the kidneys), Aniridia (absence of the colored part of the eye, the iris), Genitourinary anomalies, and mental Retardation.[1] The G is sometimes instead given as "gonadoblastoma," since the genitourinary anomalies are tumors of the gonads (testes or ovaries).[2]

A subset of WAGR syndrome patients shows severe childhood obesity; the acronym WAGRO (O for obesity) has been used to describe this category.[3]

The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.[3]

## Historical Perspective[edit | edit source]

WAGR syndrome was first described by Miller et al.[4]

## Pathophysiology[edit | edit source]

WAGR syndrome is caused by a mutation on chromosome 11 in the 11p13 region.[3] Specifically, several genes in this area are deleted, including the PAX6 ocular development gene and the Wilms' tumor gene (WT1).[5] 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.[5][6][7][8]

## Diagnosis[edit | edit source]

Newborn children with WAGR syndrome are soon noted to have aniridia. 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. Other common eye defects include cataracts and ptosis.

About 50% of patients develop Wilms' tumor.

Females with WAGR syndrome may have streak ovaries, which can increase their risk for gonadoblastoma. Malformations of the vagina and/or uterus may also be present.

Chromosomal analysis is necessary for definitive diagnosis.[9][1]

## Treatment[edit | edit source]

Children with WAGR syndrome receive regular (3-4 monthly) kidney surveillance for Wilm's tumour until at least the age of 6–8 years and thereafter remain under some follow-up because of the risk of late onset nephropathy (40% of patients over the age of 12 years).

## See also[edit | edit source]

* Denys-Drash syndrome

## References[edit | edit source]

1. ↑ 1.0 1.1 Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M (2005). "WAGR syndrome: a clinical review of 54 cases". Pediatrics. 116 (4): 984–8. PMID 16199712.CS1 maint: Multiple names: authors list (link)
2. ↑ Clericuzio CL (2004). "WAGR syndrome". In Cassidy SB, Allanson JE. Management of Genetic Syndromes (2nd edition ed.). New York, NY: John Wiley & Sons. ISBN 0-471-30870-6.CS1 maint: Extra text (link)
3. ↑ 3.0 3.1 3.2 Online Mendelian Inheritance in Man (OMIM) WAGR syndrome -194072
4. ↑ Miller RW, Fraumeni JF, Manning MD (1964). "Association of Wilms's tumor with aniridia, hemihypertrophy and other congenital malformations". N Engl J Med. 270: 922–7. PMID 14114111.CS1 maint: Multiple names: authors list (link)
5. ↑ 5.0 5.1 Glaser T, Jepeal L, Edwards J, Young S, Favor J, Maas R (1994). "PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects". Nat Genet. 7 (4): 463–71. PMID 7951315.CS1 maint: Multiple names: authors list (link)
6. ↑ 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 (2002). "PAX6 mutation as a genetic factor common to aniridia and glucose intolerance". Diabetes. 51 (1): 224–30. PMID 11756345.CS1 maint: Multiple names: authors list (link)
7. ↑ Mitchell T, Free S, Williamson K, Stevens J, Churchill A, Hanson I, Shorvon S, Moore A, van Heyningen V, Sisodiya S (2003). "Polymicrogyria and absence of pineal gland due to PAX6 mutation". Ann Neurol. 53 (5): 658–63. PMID 12731001.CS1 maint: Multiple names: authors list (link)
8. ↑ Talamillo A, Quinn J, Collinson J, Caric D, Price D, West J, Hill R (2003). "Pax6 regulates regional development and neuronal migration in the cerebral cortex". Dev Biol. 255 (1): 151–63. PMID 12618140.CS1 maint: Multiple names: authors list (link)
9. ↑ Turleau C, de Grouchy J, Nihoul-Fékété C, Dufier J, Chavin-Colin F, Junien C (1984). "Del11p13/nephroblastoma without aniridia". Hum Genet. 67 (4): 455–6. PMID 6092262.CS1 maint: Multiple names: authors list (link)

## External links[edit | edit source]

* International WAGR Syndrome Association

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