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

• Published in: Human molecular genetics Vol. 28; no. 19; pp. 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: Journal Article
• Language: English
• Published: England Oxford University Press 01-10-2019
• 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
• ISSN: 0964-6906; 1460-2083
• DOI: 10.1093/hmg/ddz168

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.