Nevo syndrome with an NSD1 deletion: A variant of Sotos syndrome?

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...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2006-01, Vol.140A (1), p.70-73
Main Authors: Kanemoto, Nobuko, Kanemoto, Katsuyoshi, Nishimura, Gen, Kamoda, Tomohiro, Visser, Remco, Shimokawa, Osamu, Matsumoto, Naomichi
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome Deletion
Chromosomes, Human, Pair 5 - genetics
Female
Gene Deletion
Growth Disorders - genetics
Growth Disorders - pathology
Humans
In Situ Hybridization, Fluorescence
Infant
Intracellular Signaling Peptides and Proteins - genetics
Medical genetics
Medical sciences
microdeletion
Nevo syndrome
NSD1
Nuclear Proteins - genetics
overgrowth
Sotos syndrome
Syndrome
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.30776