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WAGR syndrome
| WAGR syndrome | |
|---|---|
| Specialty | Oncology, obstetrics and gynaecology, urology, endocrinology, ophthalmology, neurology, medical genetics  |
WAGR syndrome (also known as WAGR complex, Wilms tumour-aniridia syndrome, aniridia-Wilms tumour syndrome) is a rare genetic syndrome in which affected children are predisposed to develop Wilms' tumour (a tumour of the kidneys), aniridia (absence of the coloured part of the eye, the iris), genitourinary anomalies, and mental retardation.[1] The "G" is sometimes instead given as "gonadoblastoma", since the genitourinary anomalies can include tumours of the gonads (testes or ovaries).[2]
Some WAGR syndrome patients show severe childhood obesity and hyperphagia, and are categorised as WAGRO (adding obesity) which may be associated with the coinciding loss of brain-derived neurotrophic factor (BDNF) a gene that is also on chromosome 11.[3][4]
The condition, first described by Miller et al. in 1964 in its association with other congenital malformations,[5] 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]
It is possible for those with WAGR syndrome to develop Wilms' tumor, a rare form of kidney cancer.[6]
- ^ Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M (2005). "WAGR syndrome: a clinical review of 54 cases". Pediatrics. 116 (4): 984–8. doi:10.1542/peds.2004-0467. PMID 16199712. S2CID 33798707.
- ^ Clericuzio CL (2004). "WAGR syndrome". In Cassidy SB, Allanson JE (eds.). Management of Genetic Syndromes (2nd ed.). New York, NY: John Wiley & Sons. ISBN 0-471-30870-6.
- ^ a b Online Mendelian Inheritance in Man (OMIM): WAGR syndrome - 194072
- ^ Han JC, Liu QR, Jones M, Levinn RL, Menzie CM, Jefferson-George KS, Adler-Wailes DC, Sanford EL, Lacbawan FL, Uhl GR, Rennert OM, Yanovski JA (August 2008). "Brain-derived neurotrophic factor and obesity in the WAGR syndrome". The New England Journal of Medicine. 359 (9): 918–27. doi:10.1056/NEJMoa0801119. PMC 2553704. PMID 18753648.
- ^ Miller RW, Fraumeni JF, Manning MD (1964). "Association of Wilms's tumour with aniridia, hemihypertrophy and other congenital malformations". N Engl J Med. 270 (18): 922–7. doi:10.1056/NEJM196404302701802. PMID 14114111.
- ^ Reference, Genetics Home. "WAGR syndrome". Genetics Home Reference. Retrieved 2018-04-17.
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