Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome?
Am J Med Genet A
; 140(1): 70-3, 2006 Jan 01.
Article
em En
| MEDLINE
| ID: mdl-16329110
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.
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Proteínas Nucleares
/
Deleção de Genes
/
Peptídeos e Proteínas de Sinalização Intracelular
/
Transtornos do Crescimento
Limite:
Female
/
Humans
/
Infant
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article