| Literature DB >> 31530938 |
Futoshi Sekiguchi1, Yoshinori Tsurusaki1,2, Nobuhiko Okamoto3, Keng Wee Teik4, Seiji Mizuno5, Hiroshi Suzumura6, Bertrand Isidor7, Winnie Peitee Ong4, Muzhirah Haniffa4, Susan M White8,9, Mari Matsuo10, Kayoko Saito10, Shubha Phadke11, Tomoki Kosho12, Patrick Yap13,14, Manisha Goyal15, Lorne A Clarke16, Rani Sachdev17, George McGillivray8, Richard J Leventer18, Chirag Patel19, Takanori Yamagata20, Hitoshi Osaka20, Yoshiya Hisaeda21, Hirofumi Ohashi22, Kenji Shimizu22, Keisuke Nagasaki23, Junpei Hamada24, Sumito Dateki25, Takashi Sato26, Yasutsugu Chinen27, Tomonari Awaya28,29, Takeo Kato29, Kougoro Iwanaga29, Masahiko Kawai29, Takashi Matsuoka30, Yoshikazu Shimoji30, Tiong Yang Tan8,9, Seema Kapoor31, Nerine Gregersen13, Massimiliano Rossi32, Mathieu Marie-Laure32, Lesley McGregor33, Kimihiko Oishi34, Lakshmi Mehta34, Greta Gillies35, Paul J Lockhart35, Kate Pope35, Anju Shukla36, Katta Mohan Girisha36, Ghada M H Abdel-Salam37, David Mowat38, David Coman39, Ok Hwa Kim40, Marie-Pierre Cordier41, Kate Gibson42, Jeff Milunsky43, Jan Liebelt44, Helen Cox45, Salima El Chehadeh46, Annick Toutain47, Ken Saida1, Hiromi Aoi1,48, Gaku Minase1, Naomi Tsuchida1, Kazuhiro Iwama1, Yuri Uchiyama1,49,50, Toshifumi Suzuki1,48, Kohei Hamanaka1, Yoshiteru Azuma1, Atsushi Fujita1, Eri Imagawa1,34, Eriko Koshimizu1, Atsushi Takata1, Satomi Mitsuhashi1, Satoko Miyatake1,50, Takeshi Mizuguchi1, Noriko Miyake1, Naomichi Matsumoto51.
Abstract
Coffin-Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, intellectual disability, and hypoplasia of the fifth digit and nails. Pathogenic variants for CSS have been found in genes encoding proteins in the BAF (BRG1-associated factor) chromatin-remodeling complex. To date, more than 150 CSS patients with pathogenic variants in nine BAF-related genes have been reported. We previously reported 71 patients of whom 39 had pathogenic variants. Since then, we have recruited an additional 182 CSS-suspected patients. We performed comprehensive genetic analysis on these 182 patients and on the previously unresolved 32 patients, targeting pathogenic single nucleotide variants, short insertions/deletions and copy number variations (CNVs). We confirmed 78 pathogenic variations in 78 patients. Pathogenic variations in ARID1B, SMARCB1, SMARCA4, ARID1A, SOX11, SMARCE1, and PHF6 were identified in 48, 8, 7, 6, 4, 1, and 1 patients, respectively. In addition, we found three CNVs including SMARCA2. Of particular note, we found a partial deletion of SMARCB1 in one CSS patient and we thoroughly investigated the resulting abnormal transcripts.Entities:
Mesh：
Year: 2019 PMID： 31530938 DOI： 10.1038/s10038-019-0667-4
Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172