Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins


Bremond-Gignac, D., Gerard-Blanluet, M., Copin, H., Bitoun, P., Baumann, C., Crolla, J.A., Benzacken, B. and Verloes, A. (2005) Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins. American Journal of Medical Genetics Part A, 134, (4), 422-425. (doi:10.1002/ajmg.a.30646).

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Original Publication URL: http://dx.doi.org/10.1002/ajmg.a.30646

Description/Abstract

The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, Aniridia, Genito-urinary abnormalities, and growth and mental retardation which is invariably associated with an 11p13 deletion. We report two monozygotic twins and a third, unrelated patient with WAGR syndrome and additional clinical features not usually associated with WAGR. Both twins had developmental delay, growth deficiency, severe ocular involvement (nystagmus, aniridia, cataracts), atrial septal defect and two uncommon findings: agenesis of the corpus callosum and duplication of the halluces. One twin developed Wilms tumors aged 19 months while her sister remained tumor free by the age of 6.5 years. The singleton patient showed typical WAGR syndrome and preaxial hallucal polydactyly. Molecular cytogenetic studies refined the identification of the extent of the deleted segments, which were not identical in the two families. The two deletions included the PAX6 and WT1 genes as previously reported in typical WAGR patients. The unusual anomalies described in this report, may represent the expression of low penetrant traits associated with haploinsufficency of one or more of the genes present in the deletion (PAX6 is expressed in CNS) or may indicate epistatic influences of modifier genes on the expression of gene(s) present in the WAGR region

Item Type: Article
ISSNs: 1552-4825 (print)
Related URLs:
Keywords: corpus callosum, chromosomes, syndrome, eye proteins, preschool, paired box transcription factors, protein, humans, wagr syndrome, chromosome banding, chromosome deletion, multiple, report, follow-up studies, in situ hybridization, wt1 proteins, family, hallux, twins, genetics, genes, child, france, abnormalities, pathology, polydactyly, monozygotic, karyotyping, child, homeodomain proteins, patients, repressor proteins, abnormalities, infant, male, fluorescence, mental retardation, female, aged, transcription factors, microsatellite repeats, proteins, wilms tumor, growth, human,pair 11, twins, aniridia, cataract, deficiency, gene deletion
Subjects: R Medicine > RC Internal medicine
Q Science > QH Natural history > QH426 Genetics
Divisions: University Structure - Pre August 2011 > School of Medicine
ePrint ID: 59518
Date Deposited: 03 Sep 2008
Last Modified: 27 Mar 2014 18:41
URI: http://eprints.soton.ac.uk/id/eprint/59518

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