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Low factor XII level in an individual with Sotos syndrome
Author(s) -
Shen Joseph J.,
Kurotaki N.,
Patel A.,
Lupski J.R.,
Brown C.W.
Publication year - 2005
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.20177
Subject(s) - sotos syndrome , medicine , locus (genetics) , phenotype , pediatrics , gene , genetics , biology
Abstract Sotos syndrome is an overgrowth disorder that manifests characteristic dysmorphic features, neurological problems, and an increased risk for cancers and heart defects. Alterations of NSD1 are responsible for this disease. A subset of cases arise from deletions, which is of interest as the factor XII locus lies in close proximity to NSD1 . This case report describes an individual with Sotos syndrome and factor XII deficiency, providing a potential link between these two genes and, consequently, expanding the clinical phenotype of Sotos syndrome. © 2004 Wiley‐Liss, Inc.