Leonardo Vieira Lins1,3*, Caio Carvalho Inácio de Vasconcellos1,3, Isabella Almeida Anjo Pinho1,3, Catielly Ferreira Rocha2,3, Suely Rodrigues dos Santos1,2,3
1Laboratory of Human Cytogenetics - Department of Genetics and Molecular Biology - Federal University of the State of Rio de Janeiro (UNIRIO)
2Postgraduate program in Neurology (PPGNEURO) - UNIRIO
3Genetic Outpatient Clinic of the Gaffrée and Guinle University Hospital (HUGG) – UNIRIO
WAGRO (W - Wilms' tumor; A - aniridia; G - genital abnormalities; R - mental retardation; Oobesity) it is a genetic syndrome that is related to de novo deletion of the chromosomal region 11p14-11p12 and uncommonly to the family inheritance due to translocation involving the short arm of chromosome 11. The phenotype resulting from the haplo insufficiency of some genes, located in this region, such as: Paired Box Protein 6 (PAX-6) - aniridia; Wilms Tumor 1 (WT-1) - related to Wilms' tumor; Brain-Derived Neurotrophic Factor (BNDF) - related to nerve cell survival and energy homeostasis. We report the case of female patient who was born with bilateral congenital cataract and during surgery aniridia was confirmed; mental disability, obesity, insulin resistance, single kidney and unusual association with IEM for tyrosine and metabolites. She was evaluated in the Out patients genetics unity of the University Hospital Gafrée and Guinle of Federal University of Rio de Janeiro State (UNIRIO), where the suspicion of WAGRO syndrome was raised. For this reason, karyotype was performed, to exclude complex rearrangements, with normal result. So, Multiplex ligation-dependent probe amplification (MLPA) was indicated and confirmed WAGRO, whose dele
WAGRO; MLPA; DCDC1; FSHB
Lins LV, de Vasconcellos CCI, Pinho IAA, Rocha CF, dos Santos SR. WAGRO Associated with Alteration Inborn Error of Metabolism: A Case Report. World J Clin Pathol. 2018;1(1):1002.