LMO2 gene deletions significantly worsen the prognosis of Wilms' tumor development in patients with WAGR syndrome.
Journal
Human molecular genetics
ISSN: 1460-2083
Titre abrégé: Hum Mol Genet
Pays: England
ID NLM: 9208958
Informations de publication
Date de publication:
01 10 2019
01 10 2019
Historique:
received:
03
05
2019
revised:
03
07
2019
accepted:
08
07
2019
pubmed:
16
7
2019
medline:
12
5
2020
entrez:
16
7
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31304537
pii: 5531821
doi: 10.1093/hmg/ddz168
doi:
Substances chimiques
Adaptor Proteins, Signal Transducing
0
LIM Domain Proteins
0
LMO2 protein, human
0
Proto-Oncogene Proteins
0
WT1 Proteins
0
WT1 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
3323-3326Informations de copyright
© The Author(s) 2019. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.