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Title: Legius syndrome in fourteen families
Authors: Denayer, Ellen
Chmara, Magdalena
Brems, Hilde
Kievit, Anneke Maat
van Bever, Yolande
Van den Ouweland, Ans Mw
Van Minkelen, Rick
de Goede-Bolder, Arja
Oostenbrink, Rianne
Lakeman, Phillis
Beert, Eline
Ishizaki, Takuma
Mori, Tomoaki
Keymolen, Kathelijn
Van den Ende, Jenneke
Mangold, Elisabeth
Peltonen, Sirkku
Brice, Glen
Rankin, Julia
Van Spaendonck-Zwarts, Karin Y
Yoshimura, Akihiko
Legius, Eric # ×
Issue Date: Jan-2011
Publisher: John Wiley & Sons, Inc.
Series Title: Human Mutation vol:32 issue:1 pages:E1985-E1998
Abstract: Legius syndrome presents as an autosomal dominant condition characterized by café-au-lait macules with or without freckling and sometimes a Noonan-like appearance and/or learning difficulties. It is caused by germline loss-of-function SPRED1 mutations and is a member of the RAS-MAPK pathway syndromes. Most mutations result in a truncated protein and only a few inactivating missense mutations have been reported. Since only a limited number of patients has been reported up until now, the full clinical and mutational spectrum is still unknown. We report mutation data and clinical details in fourteen new families with Legius syndrome. Six novel germline mutations are described. The Trp31Cys mutation is a new pathogenic SPRED1 missense mutation. Clinical details in the 14 families confirmed the absence of neurofibromas, and Lisch nodules, and the absence of a high prevalence of central nervous system tumors. We report white matter T2 hyperintensities on brain MRI scans in 2 patients and a potential association between postaxial polydactyly and Legius syndrome. © 2010 Wiley-Liss, Inc.
URI: 
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Neurofibromatosis Research
× corresponding author
# (joint) last author

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