Less Frequent NSD1-Intragenic Deletions in Japanese Sotos Syndrome: Analysis of 30 Patients by NSD1-Exon Array CGH, Quantitative Fluorescent Duplex PCR, and Fluorescence In Situ Hybridization
スポンサーリンク
概要
- 論文の詳細を見る
Sotos syndrome (SoS, OMIM #117550) is an autosomal dominant overgrowth syndrome with pre- and postnatal excessive growth, characteristic craniofacial features, and variable degrees of developmental delay. Haploinsufficiency of the nuclear receptor binding SET domain containing protein 1 (NSD1) gene causes SoS, as two thirds of SoS patients had either a whole-gene microdeletion or an intragenic point mutation. However, the etiology of other patients remains undetermined. In the present study, we analyzed 30 Japanese SoS patients on whether they have NSD1 intragenic deletions by NSD1-specific exon microarray comparative genomic hybridization (array CGH). Although the analysis suggested a deletion at the 5' region of NSD1 in 16 of the 30 patients, no such abnormalities were confirmed by subsequent quantitative fluorescent duplex PCR and fluorescence in situ hybridization. As no intragenic deletions have been identified in our series of SoS patients, other genetic aberrations need to be identified.
- 長崎大学の論文
著者
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Harada Naoki
Department Of Molecular Cytogenetics Kyushu Medical Science Inc.
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Harada Naoki
北海道医療大学 個体差健康科学研究所
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Matsumoto Naomichi
長崎大学 医歯薬学研究科人類遺伝学
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Miyake Noriko
Department of Biochemistry and Molecular Biology, and Division of Gene Therapy Research Center for A
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HARADA Naoki
Kyushu Medical Science
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FUKUSHIMA Yoshimitsu
Department of Medical Genetics, Shinshu University School of Medicine
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Miwa Nobutomo
Department Of Human Genetics Nagasaki University Graduate School Of Biomedical Sciences
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Miyake Noriko
Department Of Medicine (genetics) Children's Hospital Boston
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Miyake Noriko
Department Of Biochemistry And Molecular Biology And Division Of Gene Therapy Research Center For Ad
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Ohta T
Sorst Japan Science And Technology Agency
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Ohta Tohru
Department Of Neurosurgery Akita University Graduate School Of Medicine
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Nadiya Sosonkina
The Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido
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Ohta Tohru
SORST, Japan Science and Technology Agency
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Matsumoto Naomichi.
Department of Human Genetics, Yokohama City University Graduate School of Medicine
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Fukushima Y
Department Of Preventive Medicine Shinshu University School Of Medicine
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Ohta Tohru
Sorst Japan Science And Technology Agency
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Sosonkina Nadiya
The Research Institute Of Personalized Health Sciences Health Sciences University Of Hokkaido
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Nadiya Sosonkina
The Research Institute Of Personalized Health Sciences Health Sciences University Of Hokkaido
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Fukushima Yoshimitsu
Department Of Hygiene And Medical Genetics Shinshu University School Of Medicine
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Fukushima Yoshimitsu
Department Of Human Genetics Shinshu University School Of Medicine
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Harada Naoki
SORST, Japan Science and Technology Agency
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Starenki Dmytro
Kyushu Medical Science Nagasaki Laboratory
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Matsumoto Nomich
Department of Human Genetics, Yokohama City University Graduate School of Medicine
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