Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

Futoshi Sekiguchi; Yoshinori Tsurusaki; Nobuhiko Okamoto; Keng Wee Teik; Seiji Mizuno; Hiroshi Suzumura; Bertrand Isidor; Winnie Peitee Ong; Muzhirah Haniffa; Susan M. White; Mari Matsuo; Kayoko Saito; Shubha Phadke; Tomoki Kosho; Patrick Yap; Manisha Goyal; Lorne A. Clarke; Rani Sachdev; George McGillivray; Richard J. Leventer; Chirag Patel; Takanori Yamagata; Hitoshi Osaka; Yoshiya Hisaeda; Hirofumi Ohashi; Kenji Shimizu; Keisuke Nagasaki; Junpei Hamada; Sumito Dateki; Takashi Sato; Yasutsugu Chinen; Tomonari Awaya; Takeo Kato; Kougoro Iwanaga; Masahiko Kawai; Takashi Matsuoka; Yoshikazu Shimoji; Tiong Yang Tan; Seema Kapoor; Nerine Gregersen; Massimiliano Rossi; Mathieu Marie-Laure; Lesley McGregor; Kimihiko Oishi; Lakshmi Mehta; Greta Gillies; Paul J. Lockhart; Kate Pope; Anju Shukla; Katta Mohan Girisha; Ghada M.H. Abdel-Salam; David Mowat; David Coman; Ok Hwa Kim; Marie Pierre Cordier; Kate Gibson; Jeff Milunsky; Jan Liebelt; Helen Cox; Salima El Chehadeh; Annick Toutain; Ken Saida; Hiromi Aoi; Gaku Minase; Naomi Tsuchida; Kazuhiro Iwama; Yuri Uchiyama; Toshifumi Suzuki; Kohei Hamanaka; Yoshiteru Azuma; Atsushi Fujita; Eri Imagawa; Eriko Koshimizu; Atsushi Takata; Satomi Mitsuhashi; Satoko Miyatake; Takeshi Mizuguchi; Noriko Miyake; Naomichi Matsumoto

doi:10.1038/s10038-019-0667-4

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, Keng Wee Teik, Seiji Mizuno, Hiroshi Suzumura, Bertrand Isidor, Winnie Peitee Ong, Muzhirah Haniffa, Susan M. White, Mari Matsuo, Kayoko Saito, Shubha Phadke, Tomoki Kosho, Patrick Yap, Manisha Goyal, Lorne A. Clarke, Rani Sachdev, George McGillivray, Richard J. LeventerChirag Patel, Takanori Yamagata, Hitoshi Osaka, Yoshiya Hisaeda, Hirofumi Ohashi, Kenji Shimizu, Keisuke Nagasaki, Junpei Hamada, Sumito Dateki, Takashi Sato, Yasutsugu Chinen, Tomonari Awaya, Takeo Kato, Kougoro Iwanaga, Masahiko Kawai, Takashi Matsuoka, Yoshikazu Shimoji, Tiong Yang Tan, Seema Kapoor, Nerine Gregersen, Massimiliano Rossi, Mathieu Marie-Laure, Lesley McGregor, Kimihiko Oishi, Lakshmi Mehta, Greta Gillies, Paul J. Lockhart, Kate Pope, Anju Shukla, Katta Mohan Girisha, Ghada M.H. Abdel-Salam, David Mowat, David Coman, Ok Hwa Kim, Marie Pierre Cordier, Kate Gibson, Jeff Milunsky, Jan Liebelt, Helen Cox, Salima El Chehadeh, Annick Toutain, Ken Saida, Hiromi Aoi, Gaku Minase, Naomi Tsuchida, Kazuhiro Iwama, Yuri Uchiyama, Toshifumi Suzuki, Kohei Hamanaka, Yoshiteru Azuma, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Atsushi Takata, Satomi Mitsuhashi, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake, Naomichi Matsumoto

Department of Medical Genetics, Kasturba Medical College, Manipal

Research output: Contribution to journal › Article › peer-review

29 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1173-1186
Number of pages	14
Journal	Journal of Human Genetics
Volume	64
Issue number	12
DOIs	https://doi.org/10.1038/s10038-019-0667-4
Publication status	Published - 01-12-2019

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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10.1038/s10038-019-0667-4

Cite this

Sekiguchi, F., Tsurusaki, Y., Okamoto, N., Teik, K. W., Mizuno, S., Suzumura, H., Isidor, B., Ong, W. P., Haniffa, M., White, S. M., Matsuo, M., Saito, K., Phadke, S., Kosho, T., Yap, P., Goyal, M., Clarke, L. A., Sachdev, R., McGillivray, G., ... Matsumoto, N. (2019). Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients. Journal of Human Genetics, 64(12), 1173-1186. https://doi.org/10.1038/s10038-019-0667-4

@article{88d6798d871a48aa82c0043d5c4c809b,

title = "Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients",

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.",

author = "Futoshi Sekiguchi and Yoshinori Tsurusaki and Nobuhiko Okamoto and Teik, {Keng Wee} and Seiji Mizuno and Hiroshi Suzumura and Bertrand Isidor and Ong, {Winnie Peitee} and Muzhirah Haniffa and White, {Susan M.} and Mari Matsuo and Kayoko Saito and Shubha Phadke and Tomoki Kosho and Patrick Yap and Manisha Goyal and Clarke, {Lorne A.} and Rani Sachdev and George McGillivray and Leventer, {Richard J.} and Chirag Patel and Takanori Yamagata and Hitoshi Osaka and Yoshiya Hisaeda and Hirofumi Ohashi and Kenji Shimizu and Keisuke Nagasaki and Junpei Hamada and Sumito Dateki and Takashi Sato and Yasutsugu Chinen and Tomonari Awaya and Takeo Kato and Kougoro Iwanaga and Masahiko Kawai and Takashi Matsuoka and Yoshikazu Shimoji and Tan, {Tiong Yang} and Seema Kapoor and Nerine Gregersen and Massimiliano Rossi and Mathieu Marie-Laure and Lesley McGregor and Kimihiko Oishi and Lakshmi Mehta and Greta Gillies and Lockhart, {Paul J.} and Kate Pope and Anju Shukla and Girisha, {Katta Mohan} and Abdel-Salam, {Ghada M.H.} and David Mowat and David Coman and Kim, {Ok Hwa} and Cordier, {Marie Pierre} and Kate Gibson and Jeff Milunsky and Jan Liebelt and Helen Cox and {El Chehadeh}, Salima and Annick Toutain and Ken Saida and Hiromi Aoi and Gaku Minase and Naomi Tsuchida and Kazuhiro Iwama and Yuri Uchiyama and Toshifumi Suzuki and Kohei Hamanaka and Yoshiteru Azuma and Atsushi Fujita and Eri Imagawa and Eriko Koshimizu and Atsushi Takata and Satomi Mitsuhashi and Satoko Miyatake and Takeshi Mizuguchi and Noriko Miyake and Naomichi Matsumoto",

year = "2019",

month = dec,

day = "1",

doi = "10.1038/s10038-019-0667-4",

language = "English",

volume = "64",

pages = "1173--1186",

journal = "Jinrui idengaku zasshi. The Japanese journal of human genetics",

issn = "1434-5161",

publisher = "Nature Publishing Group",

number = "12",

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Sekiguchi, F, Tsurusaki, Y, Okamoto, N, Teik, KW, Mizuno, S, Suzumura, H, Isidor, B, Ong, WP, Haniffa, M, White, SM, Matsuo, M, Saito, K, Phadke, S, Kosho, T, Yap, P, Goyal, M, Clarke, LA, Sachdev, R, McGillivray, G, Leventer, RJ, Patel, C, Yamagata, T, Osaka, H, Hisaeda, Y, Ohashi, H, Shimizu, K, Nagasaki, K, Hamada, J, Dateki, S, Sato, T, Chinen, Y, Awaya, T, Kato, T, Iwanaga, K, Kawai, M, Matsuoka, T, Shimoji, Y, Tan, TY, Kapoor, S, Gregersen, N, Rossi, M, Marie-Laure, M, McGregor, L, Oishi, K, Mehta, L, Gillies, G, Lockhart, PJ, Pope, K, Shukla, A , Girisha, KM, Abdel-Salam, GMH, Mowat, D, Coman, D, Kim, OH, Cordier, MP, Gibson, K, Milunsky, J, Liebelt, J, Cox, H, El Chehadeh, S, Toutain, A, Saida, K, Aoi, H, Minase, G, Tsuchida, N, Iwama, K, Uchiyama, Y, Suzuki, T, Hamanaka, K, Azuma, Y, Fujita, A, Imagawa, E, Koshimizu, E, Takata, A, Mitsuhashi, S, Miyatake, S, Mizuguchi, T, Miyake, N & Matsumoto, N 2019, 'Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients', Journal of Human Genetics, vol. 64, no. 12, pp. 1173-1186. https://doi.org/10.1038/s10038-019-0667-4

TY - JOUR

T1 - Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

AU - Sekiguchi, Futoshi

AU - Tsurusaki, Yoshinori

AU - Okamoto, Nobuhiko

AU - Teik, Keng Wee

AU - Mizuno, Seiji

AU - Suzumura, Hiroshi

AU - Isidor, Bertrand

AU - Ong, Winnie Peitee

AU - Haniffa, Muzhirah

AU - White, Susan M.

AU - Matsuo, Mari

AU - Saito, Kayoko

AU - Phadke, Shubha

AU - Kosho, Tomoki

AU - Yap, Patrick

AU - Goyal, Manisha

AU - Clarke, Lorne A.

AU - Sachdev, Rani

AU - McGillivray, George

AU - Leventer, Richard J.

AU - Patel, Chirag

AU - Yamagata, Takanori

AU - Osaka, Hitoshi

AU - Hisaeda, Yoshiya

AU - Ohashi, Hirofumi

AU - Shimizu, Kenji

AU - Nagasaki, Keisuke

AU - Hamada, Junpei

AU - Dateki, Sumito

AU - Sato, Takashi

AU - Chinen, Yasutsugu

AU - Awaya, Tomonari

AU - Kato, Takeo

AU - Iwanaga, Kougoro

AU - Kawai, Masahiko

AU - Matsuoka, Takashi

AU - Shimoji, Yoshikazu

AU - Tan, Tiong Yang

AU - Kapoor, Seema

AU - Gregersen, Nerine

AU - Rossi, Massimiliano

AU - Marie-Laure, Mathieu

AU - McGregor, Lesley

AU - Oishi, Kimihiko

AU - Mehta, Lakshmi

AU - Gillies, Greta

AU - Lockhart, Paul J.

AU - Pope, Kate

AU - Shukla, Anju

AU - Girisha, Katta Mohan

AU - Abdel-Salam, Ghada M.H.

AU - Mowat, David

AU - Coman, David

AU - Kim, Ok Hwa

AU - Cordier, Marie Pierre

AU - Gibson, Kate

AU - Milunsky, Jeff

AU - Liebelt, Jan

AU - Cox, Helen

AU - El Chehadeh, Salima

AU - Toutain, Annick

AU - Saida, Ken

AU - Aoi, Hiromi

AU - Minase, Gaku

AU - Tsuchida, Naomi

AU - Iwama, Kazuhiro

AU - Uchiyama, Yuri

AU - Suzuki, Toshifumi

AU - Hamanaka, Kohei

AU - Azuma, Yoshiteru

AU - Fujita, Atsushi

AU - Imagawa, Eri

AU - Koshimizu, Eriko

AU - Takata, Atsushi

AU - Mitsuhashi, Satomi

AU - Miyatake, Satoko

AU - Mizuguchi, Takeshi

AU - Miyake, Noriko

AU - Matsumoto, Naomichi

PY - 2019/12/1

Y1 - 2019/12/1

N2 - 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.

AB - 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.

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U2 - 10.1038/s10038-019-0667-4

DO - 10.1038/s10038-019-0667-4

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AN - SCOPUS:85073921810

SN - 1434-5161

VL - 64

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EP - 1186

JO - Jinrui idengaku zasshi. The Japanese journal of human genetics

JF - Jinrui idengaku zasshi. The Japanese journal of human genetics

IS - 12

ER -

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

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