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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
Döring FE, Onur S, Geisen U, Boulay MR, Pérusse L, Rankinen T, Rauramaa R, Wolfahrt B, Bouchard C
J Sports Sci 2010 Oct;28(12):1355-9. doi: 10.1080/02640414.2010.507675. PMID: 20845221
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
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
Gupta V, Discenza M, Guyon JR, Kunkel LM, Beggs AH
FASEB J 2012 May;26(5):1892-908. Epub 2012 Jan 17 doi: 10.1096/fj.11-194548. PMID: 22253474Free PMC Article
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
Yang N, Schindeler A, McDonald MM, Seto JT, Houweling PJ, Lek M, Hogarth M, Morse AR, Raftery JM, Balasuriya D, MacArthur DG, Berman Y, Quinlan KG, Eisman JA, Nguyen TV, Center JR, Prince RL, Wilson SG, Zhu K, Little DG, North KN
Bone 2011 Oct;49(4):790-8. Epub 2011 Jul 19 doi: 10.1016/j.bone.2011.07.009. PMID: 21784188
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

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
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
Döring FE, Onur S, Geisen U, Boulay MR, Pérusse L, Rankinen T, Rauramaa R, Wolfahrt B, Bouchard C
J Sports Sci 2010 Oct;28(12):1355-9. doi: 10.1080/02640414.2010.507675. PMID: 20845221
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

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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