WAGR syndrome
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
| WAGR syndrome | |
| OMIM | 194072 |
|---|---|
| DiseasesDB | 14025 |
| eMedicine | ped/2423 |
| MeSH | D017624 |
Synonyms and keywords: WAGR complex; Wilms tumor-aniridia syndrome; aniridia-Wilms tumor syndrome; Wilms tumor - aniridia - genitourinary anomalies - mental retardation
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Overview
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
WAGR syndrome was first described by Miller et al.[4]
Pathophysiology
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
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.
Chromosomal analysis is necessary for definitive diagnosis.[9][1]
See also
References
- ↑ 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.
- ↑ 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.
- ↑ 3.0 3.1 3.2 Online Mendelian Inheritance in Man (OMIM) WAGR syndrome -194072
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.