Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy
Armfield X-linked disability (XLID) disorder has previously been linked to a locus in Xq28. Here, the authors report rare missense variants in FAM50A at Xq28, show that FAM50A interacts with the spliceosome, and that mis-splicing is enriched in knockout zebrafish suggesting it is a spliceosomopathy.
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Nature Portfolio
2020
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oai:doaj.org-article:63052a3b677a4732a00742387ae8a8ff2021-12-02T17:55:10ZMutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy10.1038/s41467-020-17452-62041-1723https://doaj.org/article/63052a3b677a4732a00742387ae8a8ff2020-07-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-17452-6https://doaj.org/toc/2041-1723Armfield X-linked disability (XLID) disorder has previously been linked to a locus in Xq28. Here, the authors report rare missense variants in FAM50A at Xq28, show that FAM50A interacts with the spliceosome, and that mis-splicing is enriched in knockout zebrafish suggesting it is a spliceosomopathy.Yu-Ri LeeKamal KhanKim Armfield-UhasSujata SrikanthNicola A. ThompsonMercedes PardoLu YuJoy W. NorrisYunhui PengKaren W. GrippKirk A. AleckChumei LiEd SpenceTae-Ik ChoiSoo Jeong KwonHee-Moon ParkDaseuli YuWon Do HeoMarie R. MooneyShahid M. BaigIngrid M. WentzensenAida TelegrafiKirsty McWalterTrevor MorelandChelsea RoadhouseKeri RamseyMichael J. LyonsCindy SkinnerEmil AlexovNicholas KatsanisRoger E. StevensonJyoti S. ChoudharyDavid J. AdamsCheol-Hee KimErica E. DavisCharles E. SchwartzNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-17 (2020) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q Yu-Ri Lee Kamal Khan Kim Armfield-Uhas Sujata Srikanth Nicola A. Thompson Mercedes Pardo Lu Yu Joy W. Norris Yunhui Peng Karen W. Gripp Kirk A. Aleck Chumei Li Ed Spence Tae-Ik Choi Soo Jeong Kwon Hee-Moon Park Daseuli Yu Won Do Heo Marie R. Mooney Shahid M. Baig Ingrid M. Wentzensen Aida Telegrafi Kirsty McWalter Trevor Moreland Chelsea Roadhouse Keri Ramsey Michael J. Lyons Cindy Skinner Emil Alexov Nicholas Katsanis Roger E. Stevenson Jyoti S. Choudhary David J. Adams Cheol-Hee Kim Erica E. Davis Charles E. Schwartz Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy |
| description |
Armfield X-linked disability (XLID) disorder has previously been linked to a locus in Xq28. Here, the authors report rare missense variants in FAM50A at Xq28, show that FAM50A interacts with the spliceosome, and that mis-splicing is enriched in knockout zebrafish suggesting it is a spliceosomopathy. |
| format |
article |
| author |
Yu-Ri Lee Kamal Khan Kim Armfield-Uhas Sujata Srikanth Nicola A. Thompson Mercedes Pardo Lu Yu Joy W. Norris Yunhui Peng Karen W. Gripp Kirk A. Aleck Chumei Li Ed Spence Tae-Ik Choi Soo Jeong Kwon Hee-Moon Park Daseuli Yu Won Do Heo Marie R. Mooney Shahid M. Baig Ingrid M. Wentzensen Aida Telegrafi Kirsty McWalter Trevor Moreland Chelsea Roadhouse Keri Ramsey Michael J. Lyons Cindy Skinner Emil Alexov Nicholas Katsanis Roger E. Stevenson Jyoti S. Choudhary David J. Adams Cheol-Hee Kim Erica E. Davis Charles E. Schwartz |
| author_facet |
Yu-Ri Lee Kamal Khan Kim Armfield-Uhas Sujata Srikanth Nicola A. Thompson Mercedes Pardo Lu Yu Joy W. Norris Yunhui Peng Karen W. Gripp Kirk A. Aleck Chumei Li Ed Spence Tae-Ik Choi Soo Jeong Kwon Hee-Moon Park Daseuli Yu Won Do Heo Marie R. Mooney Shahid M. Baig Ingrid M. Wentzensen Aida Telegrafi Kirsty McWalter Trevor Moreland Chelsea Roadhouse Keri Ramsey Michael J. Lyons Cindy Skinner Emil Alexov Nicholas Katsanis Roger E. Stevenson Jyoti S. Choudhary David J. Adams Cheol-Hee Kim Erica E. Davis Charles E. Schwartz |
| author_sort |
Yu-Ri Lee |
| title |
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy |
| title_short |
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy |
| title_full |
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy |
| title_fullStr |
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy |
| title_full_unstemmed |
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy |
| title_sort |
mutations in fam50a suggest that armfield xlid syndrome is a spliceosomopathy |
| publisher |
Nature Portfolio |
| publishDate |
2020 |
| url |
https://doaj.org/article/63052a3b677a4732a00742387ae8a8ff |
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