Premium
Nevo syndrome with an NSD1 deletion: A variant of Sotos syndrome?
Author(s) -
Kanemoto Nobuko,
Kanemoto Katsuyoshi,
Nishimura Gen,
Kamoda Tomohiro,
Visser Remco,
Shimokawa Osamu,
Matsumoto Naomichi
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30776
Subject(s) - sotos syndrome , phenotype , medicine , hydronephrosis , pediatrics , urinary system , gastroenterology , genetics , biology , gene
Abstract A 17‐month‐old girl with clinical manifestations of Nevo syndrome and NSD1 (nuclear receptor binding SET domain protein 1) deletion is described. Nevo syndrome is a rare overgrowth syndrome showing considerable phenotypic overlap with Sotos syndrome—another, more frequent overgrowth syndrome caused by NSD1 mutations or deletions. About a half of Japanese Sotos syndrome patients carry a 2.2‐Mb common deletion encompassing NSD1 and present with frequent brain, cardiovascular, or urinary tract anomalies. The girl we described had the common deletion and showed patent ductus arteriosus, atrial septal defect, vesicoureteral reflux, and bilateral hydronephrosis. It was thus concluded that the clinical manifestations, including the Nevo syndrome phenotype, were caused by the microdeletion. © 2005 Wiley‐Liss, Inc.