Truncations of titin causing dilated cardiomyopathy.
Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, Conner L, DePalma SR, McDonough B, Sparks E, Teodorescu DL, Cirino AL, Banner NR, Pennell DJ, Graw S, Merlo M, Di Lenarda A, Sinagra G, Bos JM, Ackerman MJ, Mitchell RN, Murry CE, Lakdawala NK, Ho CY, Barton PJ, Cook SA, Mestroni L, Seidman JG, Seidman CE
N Engl J Med. 2012 366(7):619-28.
Cohort | Description | Status | Size | TTNtv % |
---|---|---|---|---|
DCM-A | Brigham and Women's Hospital | DCM | 92 | 40.2% |
DCM-B * | Royal Brompton and Harefield NHS Trust | DCM | 71 | 25.4% |
DCM-C | Familial Dilated Cardiomyopathy Registry - Colorado / Italy | DCM | 149 | 8.7% |
HCM | Brigham and Women's Hospital / Mayo Clinic | HCM | 231 | 0.9% |
Controls | Subjects without cardiomyopathy (multiple sites) | CONTROL | 249 | 2.8% |
* Please note the patients in this cohort were also included in DCM-ES cohort from the 2015 STM study.
Cohort | Patient ID | Exon | Band | Variant (CDS) | Variant (protein) | Variant Type |
---|---|---|---|---|---|---|
DCM-A | HFA-42 | 49 | I-band | c.13696C>T | p.Gln4566X | nonsense |
DCM-A | HFA-9 | 70 | I-band | c.20134delG | p.Ser6712fs | frameshift |
DCM-A | D13KD-1 | 119 | I-band | c.31427-1G>A | essential splice site | |
DCM-A | HFA-26 | 220 | I-band | c.40558+1G>A | essential splice site | |
DCM-A | HFA-41 | 220 | I-band | c.40558+1G>A | essential splice site | |
DCM-A | MIY-11 | 234 | I-band | c.42947-2A>G | essential splice site | |
DCM-A | MDT-11 | 237 | I-band | c.43544_43545insA | p.Ala14514fs | frameshift |
DCM-A | HFA-68 | 263 | A-band | c.49259delA | p.Glu16420fs | frameshift |
DCM-A | MDD-22 | 265 | A-band | c.49648+2delT | essential splice site | |
DCM-A | MIV-14 | 265 | A-band | c.49648+2delT | essential splice site | |
DCM-A | HFA-71 | 278 | A-band | c.53287+1G>T | essential splice site | |
DCM-A | HFA-63 | 300 | A-band | c.58858delC | p.Glu19619fs | frameshift |
DCM-A | MGR-11 | 303 | A-band | c.59926+1G>A | essential splice site | |
DCM-A | MDJ-21 | 305 | A-band | c.61495C>T | p.Arg20499X | nonsense |
DCM-A | MEH-11 | 305 | A-band | c.61290T>A | p.Cys20430X | nonsense |
DCM-A | MEW-11 | 305 | A-band | c.61876C>T | p.Arg20626X | nonsense |
DCM-A | MAO-92 | 307 | A-band | c.63601C>T | p.Arg21201X | nonsense |
DCM-A | SS-201 | 312 | A-band | c.65070delC | p.Pro21690fs | frameshift |
DCM-A | MAM-12 | 319 | A-band | c.67348+5G>A | other splice site | |
DCM-A | MIS-11 | 322 | A-band | c.68328A>G | other splice site | |
DCM-A | MCL-15 | 324 | A-band | c.68824+5G>C | essential splice site | |
DCM-A | HFA-57 | 327 | A-band | c.77101_77102insT | p.Gln25700fs | frameshift |
DCM-A | MEK-111 | 327 | A-band | c.72668delT | p.Pro24223fs | frameshift |
DCM-A | MGW-11 | 327 | A-band | c.85768C>T | p.Arg28590X | nonsense |
DCM-A | MHG-23 | 327 | A-band | c.71980_71986delGCATATGinsTA | p.Ala23994fs | frameshift |
DCM-A | MID-1 | 327 | A-band | c.81988C>T | p.Gln27330X | nonsense |
DCM-A | MIP-13 | 327 | A-band | c.86363G>A | p.Trp28788X | nonsense |
DCM-A | SS-287-15 | 327 | A-band | c.77646_77662delinsAGA | p.Ser25882fs | frameshift |
DCM-A | SS-725 | 327 | A-band | c.81988C>T | p.Gln27330X | nonsense |
DCM-A | MIA-1 | 327 | A-band | c.86821+2T>A | essential splice site | |
DCM-A | HFA-46 | 340 | A-band | c.94103_94107delTTAAA | p.Thr31366fs | frameshift |
DCM-A | MBG-121 | 340 | A-band | c.93451G>T | p.Glu31151X | nonsense |
DCM-A | MHQ-12 | 344 | A-band | c.95164C>T | p.Gln31722X | nonsense |
DCM-A | SS-723 | 344 | A-band | c.95416+2insCCT | essential splice site | |
DCM-A | HFA-66 | 350 | A-band | c.97492+1G>C | essential splice site | |
DCM-A | HFA-83 | 350 | A-band | c.97492+1G>C | essential splice site | |
DCM-A | MHX-11 | 355 | A-band | c.99034A>T | p.Lys33012X | nonsense |
DCM-B | UK-B12 | 220 | I-band | c.40558G>C | other splice site | |
DCM-B | UK-H11 | 249 | I-band | c.46236C>A | p.Cys15412X | nonsense |
DCM-B | UK-G1 | 267 | A-band | c.50245delT | p.Phe16749fs | frameshift |
DCM-B | UK-A3 | 279 | A-band | c.53488G>T | p.Gly17830X | nonsense |
DCM-B | UK-B1 | 302 | A-band | c.59345-5T>A | other splice site | |
DCM-B | UK-B12 | 303 | A-band | c.59627-1G>A | essential splice site | |
DCM-B | UK-A10 | 320 | A-band | c.67495C>T | p.Arg22499X | nonsense |
DCM-B | UK-B2 | 325 | A-band | c.69412+1G>A | essential splice site | |
DCM-B | UK-H2 | 327 | A-band | c.69848delT | p.Lys23281fs | frameshift |
DCM-B | UK-C8 | 327 | A-band | c.70790delA | p.Glu23597fs | frameshift |
DCM-B | UK-C6 | 327 | A-band | c.86459_86460delCT | p.Ser28820fs | frameshift |
DCM-B | UK-B6 | 329 | A-band | c.87624C>A | p.Tyr29208X | nonsense |
DCM-B | UK-E12 | 336 | A-band | c.89900_89903delATTA | p.Tyr29967fs | frameshift |
DCM-B | UK-C10 | 340 | A-band | c.93165C>T | p.Arg31056X | nonsense |
DCM-B | UK-E4 | 348 | A-band | c.96460_96461insA | p.Thr32154fs | frameshift |
DCM-B | UK-G7 | 353 | A-band | c.98299_98300delAG | p.Arg32767fs | frameshift |
DCM-B | UK-G9 | 353 | A-band | c.98506C>T | p.Arg32836X | nonsense |
DCM-B | UK-C9 | 358 | A-band | c.100445C>A | p.Ser33482X | nonsense |
DCM-C | TSSDC011-450 | 28 | near Z-disk / I-band | c.6247delG | p.Arg2083fs | frameshift |
DCM-C | DNFDC144-05-0444 | 281 | A-band | c.54000G>A | p.Trp18000X | nonsense |
DCM-C | TSFDC023-300 | 285 | A-band | c.55269+3A>G | other splice site | |
DCM-C | DNFDC116-04-1545 | 292 | A-band | c.56806G>A | p.Arg18936X | nonsense |
DCM-C | TSFDC050-115 | 295 | A-band | c.57331C>T | p.Arg19111X | nonsense |
DCM-C | TSFDC017-253-2 | 297 | A-band | c.58068_58069insG | p.Glu19356fs | frameshift |
DCM-C | DNFDC103-03-0941 | 298 | A-band | c.58270G>T | p.Glu19424X | nonsense |
DCM-C | DNFDC142-05-0569 | 305 | A-band | c.61876C>T | p.Arg20626X | nonsense |
DCM-C | DNFDC081-02-1564 | 327 | A-band | c.85969A>T | p.Lys28657X | nonsense |
DCM-C | DNFDC088-02-1900 | 327 | A-band | c.84819G>A | p.Trp28273X | nonsense |
DCM-C | TSFDC002-23 | 340 | A-band | c.93165C>T | p.Arg31056X | nonsense |
DCM-C | TSSDC019-268 | 340 | A-band | c.92876G>A | p.Trp30959X | nonsense |
DCM-C | TSFDC033-434 | 346 | A-band | c.95966delA | p.Asn31989fs | frameshift |
HCM | PA-1 | 86 | I-band | c.24749_24761delGTCAAGATATCTG | p.Gly8250fs | frameshift |
HCM | SS-333 | 157 | I-band | c.35308+1G>T | essential splice site | |
Controls | pv-75 | 8 | Z-disk | c.1246-3delT | other splice site | |
Controls | N-50 | 19 | near Z-disk | c.3101-2A>T | essential splice site | |
Controls | pv-1 | 49 | I-band | c.13010delA | p.Lys4337fs | frameshift |
Controls | 12s-C11 | 204 | I-band | c.39211G>T | other splice site | |
Controls | 12s-G11 | 284 | A-band | c.55120+3A>G | other splice site | |
Controls | A-15 | 327 | A-band | c.76697_76698delTT | p.Leu25566fs | frameshift |
Controls | pv-35 | 356 | A-band | c.99865+2T>C | essential splice site |