LMO2 gene deletions significantly worsen the prognosis of Wilms’ tumor development in patients with WAGR syndrome

Abstract WAGR syndrome (OMIM #194072) is a rare genetic disorder that consists of development of Wilms’ tumor (nephroblastoma), aniridia, genitourinary anomalies and intellectual disability (mental retardation). It is associated with WAGR-region deletions in the 11p13 chromosome region. Our previous...

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Bibliographic Details
Published in:Human molecular genetics 2019-10, Vol.28 (19), p.3323-3326
Main Authors: Marakhonov, Andrey V, Vasilyeva, Tatyana A, Voskresenskaya, Anna A, Sukhanova, Natella V, Kadyshev, Vitaly V, Kutsev, Sergey I, Zinchenko, Rena A
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing - genetics
Adolescent
Adult
Child
Child, Preschool
Female
Gene Deletion
Haploinsufficiency
Humans
Infant
LIM Domain Proteins - genetics
Male
Prognosis
Proto-Oncogene Proteins - genetics
WAGR Syndrome - genetics
WT1 Proteins - genetics
Young Adult
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Summary:Abstract WAGR syndrome (OMIM #194072) is a rare genetic disorder that consists of development of Wilms’ tumor (nephroblastoma), aniridia, genitourinary anomalies and intellectual disability (mental retardation). It is associated with WAGR-region deletions in the 11p13 chromosome region. Our previous study of congenital aniridia patients revealed a noticeable number of aniridia patients with WAGR-region deletions but without Wilms’ tumor in their medical history. We assessed the involvement of other neighboring genes from affected chromosome regions in the patients with and without Wilms’ tumor. Reliable confidence was obtained for the LMO2 gene, which is significantly more often deleted in patients with nephroblastoma. Thus, our study presents genetic evidence that the development of Wilms tumors in WAGR syndrome patients should be attributed to the deletion of WT1 and LMO2 rather than WT1 only.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/ddz168