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

Authors

  • Nobuko Kanemoto,

    1. Department of Pediatrics, Ibaraki Seinan Medical Center Hospital, Sashima, Ibaraki, Japan
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  • Katsuyoshi Kanemoto,

    Corresponding author
    1. Department of Pediatrics, Ibaraki Seinan Medical Center Hospital, Sashima, Ibaraki, Japan
    • Department of Pediatrics, Ibaraki Seinan Medical Center Hospital, Sakai 2190, Sashima, Ibaraki 306-0433, Japan.
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  • Gen Nishimura,

    1. Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan
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  • Tomohiro Kamoda,

    1. Department of Pediatrics, Institute of Clinical Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan
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  • Remco Visser,

    1. Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    2. Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    3. International Consortium for Medical Care of Hibakusha and Radiation Life Science, The 21st Century COE (Center of Excellence) Program, Nagasaki, Japan
    4. CREST, Japan Science and Technology Agency, Kawaguchi, Japan
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  • Osamu Shimokawa,

    1. Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    2. CREST, Japan Science and Technology Agency, Kawaguchi, Japan
    3. Kyushu Medical Science Nagasaki Laboratory, Nagasaki, Japan
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  • Naomichi Matsumoto

    1. CREST, Japan Science and Technology Agency, Kawaguchi, Japan
    2. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
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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.

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