DMD c.9G>A ;(p.W3*)

Variant ID: X-33229421-C-T

NM_004006.2(DMD):c.9G>A;(p.W3*)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: DMD: 9G>A; Trp3Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse.

Molecular Therapy. Methods & Clinical Development
Wein, Nicolas N; Vetter, Tatyana A TA; Vulin, Adeline A; Simmons, Tabatha R TR; Frair, Emma C EC; Bradley, Adrienne J AJ; Gushchina, Liubov V LV; Almeida, Camila F CF; Huang, Nianyuan N; Lesman, Daniel D; Rajakumar, Dhanarajan D; Weiss, Robert B RB; Flanigan, Kevin M KM
Publication Date: 2022-09-08

Variant appearance in text: DMD: 9G>A
PubMed Link: 35949298
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page



The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.

Acta Neuropathologica Communications
Becker, Nicole N; Moore, Steven A SA; Jones, Karra A KA
Publication Date: 2022-02-08

Variant appearance in text: DMD: 9G>A; W3*
PubMed Link: 35135626
Variant Present in the following documents:
  • 40478_2022_1320_MOESM1_ESM.pdf
View BVdb publication page



The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.

Acta Neuropathologica Communications
Becker, Nicole N; Moore, Steven A SA; Jones, Karra A KA
Publication Date: 2022-02-08

Variant appearance in text: DMD: 9G>A; W3*
PubMed Link: 35135626
Variant Present in the following documents:
  • 40478_2022_1320_MOESM1_ESM.pdf
View BVdb publication page



Efficient precise in vivo base editing in adult dystrophic mice.

Nature Communications
Xu, Li L; Zhang, Chen C; Li, Haiwen H; Wang, Peipei P; Gao, Yandi Y; Mokadam, Nahush A NA; Ma, Jianjie J; Arnold, W David WD; Han, Renzhi R
Publication Date: 2021-06-17

Variant appearance in text: DMD: 9G>A
PubMed Link: 34140489
Variant Present in the following documents:
  • 41467_2021_23996_MOESM1_ESM.pdf
View BVdb publication page



Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping.

Molecular Therapy. Methods & Clinical Development
Simmons, Tabatha R TR; Vetter, Tatyana A TA; Huang, Nianyuan N; Vulin-Chaffiol, Adeline A; Wein, Nicolas N; Flanigan, Kevin M KM
Publication Date: 2021-06-11

Variant appearance in text: DMD: Trp3X
PubMed Link: 33898631
Variant Present in the following documents:
  • Main text
View BVdb publication page



The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.

Plos One
Torella, Annalaura A; Zanobio, Mariateresa M; Zeuli, Roberta R; Del Vecchio Blanco, Francesca F; Savarese, Marco M; Giugliano, Teresa T; Garofalo, Arcomaria A; Piluso, Giulio G; Politano, Luisa L; Nigro, Vincenzo V
Publication Date: 2020

Variant appearance in text: DMD: 9G>A
PubMed Link: 32813700
Variant Present in the following documents:
  • Main text
  • pone.0237803.pdf
View BVdb publication page



Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Pizzo, Lucilla L; Jensen, Matthew M; Polyak, Andrew A; Rosenfeld, Jill A JA; Mannik, Katrin K; Krishnan, Arjun A; McCready, Elizabeth E; Pichon, Olivier O; Le Caignec, Cedric C; Van Dijck, Anke A; Pope, Kate K; Voorhoeve, Els E; Yoon, Jieun J; Stankiewicz, Paweł P; Cheung, Sau Wai SW; Pazuchanics, Damian D; Huber, Emily E; Kumar, Vijay V; Kember, Rachel L RL; Mari, Francesca F; Curró, Aurora A; Castiglia, Lucia L; Galesi, Ornella O; Avola, Emanuela E; Mattina, Teresa T; Fichera, Marco M; Mandarà, Luana L; Vincent, Marie M; Nizon, Mathilde M; Mercier, Sandra S; Bénéteau, Claire C; Blesson, Sophie S; Martin-Coignard, Dominique D; Mosca-Boidron, Anne-Laure AL; Caberg, Jean-Hubert JH; Bucan, Maja M; Zeesman, Susan S; Nowaczyk, Małgorzata J M MJM; Lefebvre, Mathilde M; Faivre, Laurence L; Callier, Patrick P; Skinner, Cindy C; Keren, Boris B; Perrine, Charles C; Prontera, Paolo P; Marle, Nathalie N; Renieri, Alessandra A; Reymond, Alexandre A; Kooy, R Frank RF; Isidor, Bertrand B; Schwartz, Charles C; Romano, Corrado C; Sistermans, Erik E; Amor, David J DJ; Andrieux, Joris J; Girirajan, Santhosh S
Publication Date: 2019-04

Variant appearance in text: DMD: 9G>A; Trp3X
PubMed Link: 30190612
Variant Present in the following documents:
  • Main text
  • 41436_2018_Article_266.pdf
View BVdb publication page



Clinical Utility Gene Card for: Becker muscular dystrophy.

European Journal Of Human Genetics : Ejhg
Coote, David D; Davis, Mark R MR; Cabrera, Macarena M; Needham, Merrilee M; Laing, Nigel G NG; Nowak, Kristen J KJ
Publication Date: 2018-07

Variant appearance in text: DMD: 9G>A; Trp3Ter
PubMed Link: 29467387
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: DMD: 9G>A; Trp3Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.

American Journal Of Medical Genetics. Part A
Cain, Jacob T JT; Kim, Dae I DI; Quast, Megan M; Shivega, Winnie G WG; Patrick, Ryan J RJ; Moser, Chuanpit C; Reuter, Suzanne S; Perez, Myrza M; Myers, Angela A; Weimer, Jill M JM; Roux, Kyle J KJ; Landsverk, Megan M
Publication Date: 2017-05

Variant appearance in text: DMD: 9G>A
PubMed Link: 28371199
Variant Present in the following documents:
  • Main text
View BVdb publication page



The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

Journal Of Human Genetics
Reddy, Hemakumar M HM; Cho, Kyung-Ah KA; Lek, Monkol M; Estrella, Elicia E; Valkanas, Elise E; Jones, Michael D MD; Mitsuhashi, Satomi S; Darras, Basil T BT; Amato, Anthony A AA; Lidov, Hart Gw HG; Brownstein, Catherine A CA; Margulies, David M DM; Yu, Timothy W TW; Salih, Mustafa A MA; Kunkel, Louis M LM; MacArthur, Daniel G DG; Kang, Peter B PB
Publication Date: 2017-02

Variant appearance in text: DMD: 9G>A
PubMed Link: 27708273
Variant Present in the following documents:
  • Main text
  • nihms814519.pdf
View BVdb publication page



DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study.

Neurology
Bello, Luca L; Morgenroth, Lauren P LP; Gordish-Dressman, Heather H; Hoffman, Eric P EP; McDonald, Craig M CM; Cirak, Sebahattin S; ,
Publication Date: 2016-07-26

Variant appearance in text: DMD: Trp3*
PubMed Link: 27343068
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

Human Mutation
Flanigan, Kevin M KM; Dunn, Diane M DM; von Niederhausern, Andrew A; Soltanzadeh, Payam P; Howard, Michael T MT; Sampson, Jacinda B JB; Swoboda, Kathryn J KJ; Bromberg, Mark B MB; Mendell, Jerry R JR; Taylor, Laura E LE; Anderson, Christine B CB; Pestronk, Alan A; Florence, Julaine M JM; Connolly, Anne M AM; Mathews, Katherine D KD; Wong, Brenda B; Finkel, Richard S RS; Bonnemann, Carsten G CG; Day, John W JW; McDonald, Craig C; , ; Weiss, Robert B RB
Publication Date: 2011-03

Variant appearance in text: DMD: 9G>A; Trp3X
PubMed Link: 21972111
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

Bmc Medical Genetics
Magri, Francesca F; Del Bo, Roberto R; D'Angelo, Maria G MG; Govoni, Alessandra A; Ghezzi, Serena S; Gandossini, Sandra S; Sciacco, Monica M; Ciscato, Patrizia P; Bordoni, Andreina A; Tedeschi, Silvana S; Fortunato, Francesco F; Lucchini, Valeria V; Cereda, Matteo M; Corti, Stefania S; Moggio, Maurizio M; Bresolin, Nereo N; Comi, Giacomo P GP
Publication Date: 2011-03-11

Variant appearance in text: DMD: 9G>A; Trp3X
PubMed Link: 21396098
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-37.pdf
View BVdb publication page



Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

Human Mutation
Flanigan, Kevin M KM; Dunn, Diane M DM; von Niederhausern, Andrew A; Soltanzadeh, Payam P; Gappmaier, Eduard E; Howard, Michael T MT; Sampson, Jacinda B JB; Mendell, Jerry R JR; Wall, Cheryl C; King, Wendy M WM; Pestronk, Alan A; Florence, Julaine M JM; Connolly, Anne M AM; Mathews, Katherine D KD; Stephan, Carrie M CM; Laubenthal, Karla S KS; Wong, Brenda L BL; Morehart, Paula J PJ; Meyer, Amy A; Finkel, Richard S RS; Bonnemann, Carsten G CG; Medne, Livija L; Day, John W JW; Dalton, Joline C JC; Margolis, Marcia K MK; Hinton, Veronica J VJ; , ; Weiss, Robert B RB
Publication Date: 2009-12

Variant appearance in text: DMD: 9G>A
PubMed Link: 19937601
Variant Present in the following documents:
  • Main text
View BVdb publication page



DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.

Neuromuscular Disorders : Nmd
Flanigan, Kevin M KM; Dunn, Diane M DM; von Niederhausern, Andrew A; Howard, Michael T MT; Mendell, Jerry J; Connolly, Anne A; Saunders, Carol C; Modrcin, Ann A; Dasouki, Majed M; Comi, Giacomo P GP; Del Bo, Roberto R; Pickart, Angela A; Jacobson, Richard R; Finkel, Richard R; Medne, Livija L; Weiss, Robert B RB
Publication Date: 2009-11

Variant appearance in text: DMD: 9G>A
PubMed Link: 19793655
Variant Present in the following documents:
  • Main text
View BVdb publication page



DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

Human Mutation
Gurvich, Olga L OL; Maiti, Baijayanta B; Weiss, Robert B RB; Aggarwal, Gaurav G; Howard, Michael T MT; Flanigan, Kevin M KM
Publication Date: 2009-04

Variant appearance in text: DMD: 9G>A
PubMed Link: 19206170
Variant Present in the following documents:
  • Main text
View BVdb publication page