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Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype

Authors :
Martinelli, Simone
De Luca, Alessandro
Stellacci, Emilia
Rossi, Cesare
Checquolo, Saula
Lepri, Francesca
Caputo, Viviana
Silvano, Marianna
Buscherini, Francesco
Consoli, Federica
Ferrara, Grazia
Digilio, Maria C.
Cavaliere, Maria L.
van Hagen, Johanna M.
Zampino, Giuseppe
van der Burgt, Ineke
Ferrero, Giovanni B.
Mazzanti, Laura
Screpanti, Isabella
Yntema, Helger G.
Nillesen, Willy M.
Savarirayan, Ravi
Zenker, Martin
Dallapiccola, Bruno
Gelb, Bruce D.
Tartaglia, Marco
Source :
American Journal of Human Genetics. August 13, 2010, Vol. 87 Issue 2, p250, 8 p.
Publication Year :
2010

Abstract

The study reports that heterozygous germline mutations in the CBL tumor-suppressor gene can result in a phenotype with clinical features fitting or partly overlapping Noonan syndrome (NS). Evidence suggests germline mutations in CBL alter development to cause a clinically variable condition resembling NS, with possible predisposition to malignancies.

Details

Language :
English
ISSN :
00029297
Volume :
87
Issue :
2
Database :
Gale General OneFile
Journal :
American Journal of Human Genetics
Publication Type :
Academic Journal
Accession number :
edsgcl.237483898