SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Autor: Margaret F. Lippincott, Diane Lucente, Catarina M. Seabra, Shelagh Joss, Hemant Bengani, Angela Lek, Klaus W. Ruprecht, Jenny Jing, Nicholas Katsanis, Joe Rainger, Tammy Kammin, Cynthia C. Morton, Ravikumar Balasubramanian, Chie Hee Cho, Peter L. Jones, Alexandra Silva, Ianina Scheer, Jennifer R. Law, Nobuhiko Okamoto, Stephanie B. Seminara, William F. Crowley, Joseph A. Marsh, Jeanie B. Tryggestad, Markus Zweier, Benjamin Currall, Veronica van Heyningen, Serkan Erdin, Natalie D. Shaw, Michael E. Talkowski, John Graham, Daniel G. MacArthur, Kathleen A. Williamson, Morad Ansari, Angela M. Kaindl, Nirav J. Patel, Jacqueline K. Rainger, Zachary A. Kupchinsky, Koh-ichiro Yoshiura, Kaitlin E. Samocha, Angela E. Lin, Daisuke Sato, Bart Loeys, Malik Nassan, Sylvia S. Singh, Takako I. Jones, Eric C. Liao, Donncha S. Dunican, Claudia Cesaretti, Lisa A. Schimmenti, Janet E. Hall, Christina Jacobsen, Ryan L. Collins, Jill Clayton Smith, Alexei Stortchevoi, Erica E. Davis, Tatiana Pineda Buitrago, Shahrin Pereira, Masato Shino, Steven A. Moore, Wolfgang Mühlbauer, Anita Rauch, James F. Gusella, Colby Chiang, Nalton F. Ferraro, José Elías García-Ortiz, David R. FitzPatrick, Alain Verloes, Katharina Steindl, Jodi D. Hoffman, Yu An, Lacey Plummer, Benjamin Brasseur, Monkol Lek, Richard R. Meehan, Orlando Perez Silva, Harrison Brand, Steven D. Chernausek, Jason R. Willer

Publikováno v: Nature Genetics, 49, 2, pp. 238-248
Nature genetics
Shaw, N D, Brand, H, Kupchinsky, Z A, Bengani, H, Plummer, L, Jones, T I, Erdin, S, Williamson, K A, Rainger, J, Stortchevoi, A, Samocha, K, Currall, B B, Dunican, D S, Collins, R L, Willer, J R, Lek, A, Lek, M, Nassan, M, Pereira, S, Kammin, T, Lucente, D, Silva, A, Seabra, C M, Chiang, C, An, Y, Ansari, M, Rainger, J K, Joss, S, Smith, J C, Lippincott, M F, Singh, S S, Patel, N, Jing, J W, Law, J R, Ferraro, N, Verloes, A, Rauch, A, Steindl, K, Zweier, M, Scheer, I, Sato, D, Okamoto, N, Jacobsen, C, Tryggestad, J, Chernausek, S, Schimmenti, L A, Brasseur, B, Cesaretti, C, García-Ortiz, J E, Buitrago, T P, Silva, O P, Hoffman, J D, Mühlbauer, W, Ruprecht, K W, Loeys, B L, Shino, M, Kaindl, A M, Cho, C-H, Morton, C C, Meehan, R R, van Heyningen, V, Liao, E C, Balasubramanian, R, Hall, J E, Seminara, S B, Macarthur, D, Moore, S A, Yoshiura, K, Gusella, J F, Marsh, J A, Graham Jr, J M, Lin, A E, Katsanis, N, Jones, P L, Crowley Jr, W F, Davis, E E, FitzPatrick, D R & Talkowski, M E 2017, ' SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ', Nature Genetics, vol. 49, no. 2, pp. 238-248 . https://doi.org/10.1038/ng.3743
Nature Genetics, 49, 238-248
Shaw, N D, Brand, H, Kupchinsky, Z A, Bengani, H, Plummer, L, Jones, T I, Erdin, S, Williamson, K A, Rainger, J, Stortchevoi, A, Samocha, K, Currall, B B, Dunican, D S, Collins, R L, Willer, J R, Lek, A, Lek, M, Nassan, M, Pereira, S, Kammin, T, Lucente, D, Silva, A, Seabra, C M, Chiang, C, An, Y, Ansari, M, Rainger, J K, Joss, S, Smith, J C, Lippincott, M F, Singh, S S, Patel, N, Jing, J W, Law, J R, Ferraro, N, Verloes, A, Rauch, A, Steindl, K, Zweier, M, Scheer, I, Sato, D, Okamoto, N, Jacobsen, C, Tryggestad, J, Chernausek, S, Schimmenti, L A, Brasseur, B, Cesaretti, C, García-Ortiz, J E, Buitrago, T P, Silva, O P, Hoffman, J D, Mühlbauer, W, Ruprecht, K W, Loeys, B L, Shino, M, Kaindl, A M, Cho, C-H, Morton, C C, Meehan, R R, van Heyningen, V, Liao, E C, Balasubramanian, R, Hall, J E, Seminara, S B, Macarthur, D, Moore, S A, Yoshiura, K-I, Gusella, J F, Marsh, J A, Graham, J M, Lin, A E, Katsanis, N, Jones, P L, Crowley, W F, Davis, E E, FitzPatrick, D R & Talkowski, M E 2017, ' SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ', Nature Genetics, vol. 49, no. 2, pp. 238-248 . https://doi.org/10.1038/ng.3743

Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia revealed that 84% of probands harbor a missense mutation localized to a con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d68d8df63ca8f32d22441b77159f6e8f
https://hdl.handle.net/2066/175555

Correction: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Autor: Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I Jones, Serkan Erdin, Kathleen A Williamson, Joe Rainger, Alexei Stortchevoi, Kaitlin Samocha, Benjamin B Currall, Donncha S Dunican, Ryan L Collins, Jason R Willer, Angela Lek, Monkol Lek, Malik Nassan, Shahrin Pereira, Tammy Kammin, Diane Lucente, Alexandra Silva, Catarina M Seabra, Colby Chiang, Yu An, Morad Ansari, Jacqueline K Rainger, Shelagh Joss, Jill Clayton Smith, Margaret F Lippincott, Sylvia S Singh, Nirav Patel, Jenny W Jing, Jennifer R Law, Nalton Ferraro, Alain Verloes, Anita Rauch, Katharina Steindl, Markus Zweier, Ianina Scheer, Daisuke Sato, Nobuhiko Okamoto, Christina Jacobsen, Jeanie Tryggestad, Steven Chernausek, Lisa A Schimmenti, Benjamin Brasseur, Claudia Cesaretti, Jose E García-Ortiz, Tatiana Pineda Buitrago, Orlando Perez Silva, Jodi D Hoffman, Wolfgang Mühlbauer, Klaus W Ruprecht, Bart L Loeys, Masato Shino, Angela M Kaindl, Chie-Hee Cho, Cynthia C Morton, Richard R Meehan, Veronica van Heyningen, Eric C Liao, Ravikumar Balasubramanian, Janet E Hall, Stephanie B Seminara, Daniel Macarthur, Steven A Moore, Koh-ichiro Yoshiura, James F Gusella, Joseph A Marsh, John M Graham, Angela E Lin, Nicholas Katsanis, Peter L Jones, William F Crowley, Erica E Davis, David R FitzPatrick, Michael E Talkowski

Publikováno v: Nature Genetics. 49:969-969

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::937ffba2aa7a061a40125a40e4e6442e
https://doi.org/10.1038/ng0617-969c