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 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.
Kanemoto
Nobuko
N
Department of Pediatrics, Ibaraki Seinan Medical Center Hospital, Sakai 2190, Sashima, Ibaraki 306-0433, Japan. syouni-kanemoto@seinan-mch.or.jp
Kanemoto
Katsuyoshi
K
Nishimura
Gen
G
Kamoda
Tomohiro
T
Visser
Remco
R
Shimokawa
Osamu
O
Matsumoto
Naomichi
N
D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006130:Growth Disorders / Q000235:genetics* / Q000473:pathology; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D013577:Syndrome
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human