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

作者: Tomoki Kosho , Naoki Harada , Dmytro Starenki , Yoshimitsu Fukushima , Naomichi Matsumoto

DOI: 10.11343/AMN.52.29

关键词:

摘要:

参考文章(20)
Stephen T S Lam, Tony M F Tong, Ivan F M Lo, Edgar W L Hau, Daniel H C Chan, Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome Chinese Medical Journal. ,vol. 118, pp. 1499- 1506 ,(2005)
Jenny Douglas, Kim Coleman, Katrina Tatton-Brown, Helen E Hughes, I Karen Temple, Trevor RP Cole, Nazneen Rahman, None, Evaluation of NSD2 and NSD3 in overgrowth syndromes European Journal of Human Genetics. ,vol. 13, pp. 150- 153 ,(2005) , 10.1038/SJ.EJHG.5201298
Heike Fiegler, Philippa Carr, Eleanor J. Douglas, Deborah C. Burford, Sarah Hunt, James Smith, David Vetrie, Patricia Gorman, Ian P.M. Tomlinson, Nigel P. Carter, DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones Genes, Chromosomes and Cancer. ,vol. 36, pp. 361- 374 ,(2003) , 10.1002/GCC.10155
Jenny Douglas, Sandra Hanks, I. Karen Temple, Sally Davies, Alexandra Murray, Meena Upadhyaya, Susan Tomkins, Helen E. Hughes, R.P. Trevor Cole, Nazneen Rahman, NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes The American Journal of Human Genetics. ,vol. 72, pp. 132- 143 ,(2003) , 10.1086/345647
Seval Türkmen, Gabriele Gillessen-Kaesbach, Peter Meinecke, Beate Albrecht, Luitgard M Neumann, Volker Hesse, Sükrü Palanduz, Stefanie Balg, Frank Majewski, Sigrun Fuchs, Petra Zschieschang, Monika Greiwe, Kirsten Mennicke, Friedmar R Kreuz, Harald J Dehmel, Burkhard Rodeck, Jürgen Kunze, Sigrid Tinschert, Stefan Mundlos, Denise Horn, Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes European Journal of Human Genetics. ,vol. 11, pp. 858- 865 ,(2003) , 10.1038/SJ.EJHG.5201050
Remco Visser, Tomonobu Hasegawa, Norio Niikawa, Naomichi Matsumoto, Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype Journal of Human Genetics. ,vol. 51, pp. 15- 20 ,(2006) , 10.1007/S10038-005-0314-0
Neil V. Morgan, Alex J. Tipping, Hans Joenje, Christopher G. Mathew, High frequency of large intragenic deletions in the Fanconi anemia group A gene. American Journal of Human Genetics. ,vol. 65, pp. 1330- 1341 ,(1999) , 10.1086/302627
S C Yau, M Bobrow, C G Mathew, S J Abbs, Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. Journal of Medical Genetics. ,vol. 33, pp. 550- 558 ,(1996) , 10.1136/JMG.33.7.550
Naohiro Kurotaki, Naoki Harada, Osamu Shimokawa, Noriko Miyake, Hiroshi Kawame, Kimiaki Uetake, Yoshio Makita, Tatsuro Kondoh, Tsutomu Ogata, Tomoko Hasegawa, Toshiro Nagai, Takao Ozaki, Mayumi Touyama, Ruthie Shenhav, Hirofumi Ohashi, Livija Medne, Takashi Shiihara, Shigeyuki Ohtsu, Zen-ichiro Kato, Nobuhiko Okamoto, Junji Nishimoto, Dorit Lev, Yoko Miyoshi, Satoshi Ishikiriyama, Tohru Sonoda, Satoru Sakazume, Yoshimitsu Fukushima, Kenji Kurosawa, Jan-Fang Cheng, Koh-ichiro Yoshiura, Tohru Ohta, Tatsuya Kishino, Norio Niikawa, Naomichi Matsumoto, Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion Human Mutation. ,vol. 22, pp. 378- 387 ,(2003) , 10.1002/HUMU.10270
M. Cecconi, F. Forzano, D. Milani, S. Cavani, C. Baldo, A. Selicorni, C. Pantaleoni, M. Silengo, G.B. Ferrero, G. Scarano, M. Della Monica, R. Fischetto, P. Grammatico, S. Majore, G. Zampino, L. Memo, E. Lucci Cordisco, G. Neri, M. Pierluigi, F. Dagna Bricarelli, M. Grasso, Francesca Faravelli, Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. American Journal of Medical Genetics Part A. ,vol. 134, pp. 247- 253 ,(2005) , 10.1002/AJMG.A.30492