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Actn3 deficiency

MedGen UID:
854812
Concept ID:
C3888204
Disease or Syndrome
Synonym: ALPHA-ACTININ-3 DEFICIENCY
 
Gene (location): ACTN3 (11q13.2)
 
OMIM®: 617749

Definition

Approximately 16% of the world population is predicted to have congenital deficiency of alpha-actinin-3 based on a common nonsense polymorphism in the ACTN3 gene. Expression of alpha-actinin-3 is limited to a subset of type 2 (fast) fibers. No disease phenotype is associated with this deficiency (North et al., 1999). [from OMIM]

Professional guidelines

PubMed

Houweling PJ, Papadimitriou ID, Seto JT, Pérez LM, Coso JD, North KN, Lucia A, Eynon N
Hum Mutat 2018 Dec;39(12):1774-1787. Epub 2018 Nov 8 doi: 10.1002/humu.23663. PMID: 30281865

Recent clinical studies

Etiology

Zouhal H, Coso JD, Jayavel A, Tourny C, Ravé G, Jebabli N, Clark CCT, Barthélémy B, Hackney AC, Abderrahman AB
J Sport Health Sci 2023 May;12(3):359-368. Epub 2021 Jul 17 doi: 10.1016/j.jshs.2021.07.003. PMID: 34284153Free PMC Article
Del Coso J, Moreno V, Gutiérrez-Hellín J, Baltazar-Martins G, Ruíz-Moreno C, Aguilar-Navarro M, Lara B, Lucía A
Genes (Basel) 2019 May 29;10(6) doi: 10.3390/genes10060413. PMID: 31146466Free PMC Article
Del Coso J, Hiam D, Houweling P, Pérez LM, Eynon N, Lucía A
Eur J Appl Physiol 2019 Jan;119(1):49-60. Epub 2018 Oct 16 doi: 10.1007/s00421-018-4010-0. PMID: 30327870
Houweling PJ, Papadimitriou ID, Seto JT, Pérez LM, Coso JD, North KN, Lucia A, Eynon N
Hum Mutat 2018 Dec;39(12):1774-1787. Epub 2018 Nov 8 doi: 10.1002/humu.23663. PMID: 30281865
Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K
Am J Hum Genet 2003 Sep;73(3):627-31. Epub 2003 Jul 23 doi: 10.1086/377590. PMID: 12879365Free PMC Article

Diagnosis

Head SI, Chan S, Houweling PJ, Quinlan KG, Murphy R, Wagner S, Friedrich O, North KN
PLoS Genet 2015;11(2):e1004862. Epub 2015 Jan 15 doi: 10.1371/journal.pgen.1004862. PMID: 25590636Free PMC Article
Bernardez-Pereira S, Santos PC, Krieger JE, Mansur AJ, Pereira AC
BMC Cardiovasc Disord 2014 Jul 24;14:90. doi: 10.1186/1471-2261-14-90. PMID: 25059829Free PMC Article
Sandoval-García F, Petri MH, Saavedra MA, Cruz-Reyes CV, Jara-Quezada LJ, Dávalos-Rodríguez IP, Salazar-Páramo M, Gámez-Nava JI, González-López L, García-Iglesias T, Corona-Sánchez EG, Zavaleta-Muñiz S, Vargas-Ramírez R, Vázquez-Del Mercado M, Martín-Márquez BT
Scand J Rheumatol 2012 Oct;41(5):396-400. Epub 2012 May 29 doi: 10.3109/03009742.2012.669495. PMID: 22639897
Parker KC, Kong SW, Walsh RJ; Bch, Salajegheh M, Moghadaszadeh B, Amato AA, Nazareno R, Lin YY, Krastins B, Sarracino DA, Beggs AH, Pinkus JL, Greenberg SA
Muscle Nerve 2009 Jun;39(6):739-53. doi: 10.1002/mus.21230. PMID: 19291799Free PMC Article
Rubio JC, Gómez-Gallego F, Santiago C, García-Consuegra I, Pérez M, Barriopedro MI, Andreu AL, Martín MA, Arenas J, Lucia A
Neurosci Lett 2007 Jul 18;422(3):217-22. Epub 2007 Jun 21 doi: 10.1016/j.neulet.2007.06.025. PMID: 17630210

Therapy

Vincent B, Windelinckx A, Nielens H, Ramaekers M, Van Leemputte M, Hespel P, Thomis MA
J Appl Physiol (1985) 2010 Aug;109(2):564-73. Epub 2010 May 27 doi: 10.1152/japplphysiol.01007.2009. PMID: 20507967
Clarkson PM, Hoffman EP, Zambraski E, Gordish-Dressman H, Kearns A, Hubal M, Harmon B, Devaney JM
J Appl Physiol (1985) 2005 Aug;99(2):564-9. Epub 2005 Apr 7 doi: 10.1152/japplphysiol.00130.2005. PMID: 15817725

Prognosis

Del Coso J, Moreno V, Gutiérrez-Hellín J, Baltazar-Martins G, Ruíz-Moreno C, Aguilar-Navarro M, Lara B, Lucía A
Genes (Basel) 2019 May 29;10(6) doi: 10.3390/genes10060413. PMID: 31146466Free PMC Article
Massidda M, Voisin S, Culigioni C, Piras F, Cugia P, Yan X, Eynon N, Calò CM
Clin J Sport Med 2019 Jan;29(1):57-61. doi: 10.1097/JSM.0000000000000487. PMID: 28817413
Bernardez-Pereira S, Santos PC, Krieger JE, Mansur AJ, Pereira AC
BMC Cardiovasc Disord 2014 Jul 24;14:90. doi: 10.1186/1471-2261-14-90. PMID: 25059829Free PMC Article
Ahmetov II, Druzhevskaya AM, Astratenkova IV, Popov DV, Vinogradova OL, Rogozkin VA
Br J Sports Med 2010 Jul;44(9):649-52. Epub 2008 Aug 21 doi: 10.1136/bjsm.2008.051540. PMID: 18718976
Vainzof M, Costa CS, Marie SK, Moreira ES, Reed U, Passos-Bueno MR, Beggs AH, Zatz M
Neuropediatrics 1997 Aug;28(4):223-8. doi: 10.1055/s-2007-973704. PMID: 9309713

Clinical prediction guides

Zouhal H, Coso JD, Jayavel A, Tourny C, Ravé G, Jebabli N, Clark CCT, Barthélémy B, Hackney AC, Abderrahman AB
J Sport Health Sci 2023 May;12(3):359-368. Epub 2021 Jul 17 doi: 10.1016/j.jshs.2021.07.003. PMID: 34284153Free PMC Article
Barrón-Cabrera E, Torres-Castillo N, González-Becerra K, Zepeda-Carrillo EA, Torres-Valadez R, Hernández-Cañaveral I, Martínez-López E
J Hum Nutr Diet 2022 Aug;35(4):713-721. Epub 2021 Nov 9 doi: 10.1111/jhn.12948. PMID: 34750902
Del Coso J, Moreno V, Gutiérrez-Hellín J, Baltazar-Martins G, Ruíz-Moreno C, Aguilar-Navarro M, Lara B, Lucía A
Genes (Basel) 2019 May 29;10(6) doi: 10.3390/genes10060413. PMID: 31146466Free PMC Article
Houweling PJ, Papadimitriou ID, Seto JT, Pérez LM, Coso JD, North KN, Lucia A, Eynon N
Hum Mutat 2018 Dec;39(12):1774-1787. Epub 2018 Nov 8 doi: 10.1002/humu.23663. PMID: 30281865
Kikuchi N, Yoshida S, Min SK, Lee K, Sakamaki-Sunaga M, Okamoto T, Nakazato K
Appl Physiol Nutr Metab 2015 Apr;40(4):316-22. Epub 2014 Nov 20 doi: 10.1139/apnm-2014-0346. PMID: 25761735

Recent systematic reviews

Zouhal H, Coso JD, Jayavel A, Tourny C, Ravé G, Jebabli N, Clark CCT, Barthélémy B, Hackney AC, Abderrahman AB
J Sport Health Sci 2023 May;12(3):359-368. Epub 2021 Jul 17 doi: 10.1016/j.jshs.2021.07.003. PMID: 34284153Free PMC Article

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