Article
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Human mutation - 1 Feb 2020
Bryen Samantha J, Ewans Lisa J, Pinner Jason, MacLennan Suzanna C, Donkervoort Sandra, Castro Diana, Töpf Ana, O'Grady Gina, Cummings Beryl, Chao Katherine R, Weisburd Ben, Francioli Laurent, Faiz Fathimath, Bournazos Adam M, Hu Ying, Grosmann Carla, Malicki Denise M, Doyle Helen, Witting Nanna, Vissing John, Claeys Kristl G, Urankar Kathryn, Beleza-Meireles Ana, Baptista Julia, Ellard Sian, Savarese Marco, Johari Mridul, Vihola Anna, Udd Bjarne, Majumdar Anirban, Straub Volker, Bönnemann Carsten G, MacArthur Daniel G, Davis Mark R, Cooper Sandra T
Abstract excerpt
We present eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (NM_001267550.1:c.39974-11T>G), inherited in trans with a second pathogenic TTN variant. Muscle-derived RNA studies of three individuals confirmed mis-splicing induced by the c.39974-11T>G variant; in-frame exon 214 skipping or use of a cryptic 3' splice-site effecting a frameshift....
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