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Frameshift Mutation function

MedGen UID:
86908
Concept ID:
C0079380
Cell or Molecular Dysfunction
Synonyms: Frame Shift Mutation; Frame Shift Mutations; Frameshift Mutation; Frameshift Mutations; Mutation, Frame Shift; Mutation, Frameshift; Mutation, Out-of-Frame; Mutations, Frame Shift; Mutations, Frameshift; Mutations, Out-of-Frame; Out of Frame Mutation; Out-of-Frame Mutation; Out-of-Frame Mutations
 

Definition

A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGFrameshift Mutation function

Recent clinical studies

Etiology

Bredrup C, Johansson S, Bindoff LA, Sztromwasser P, Kråkenes J, Mellgren AE, Brurås KR, Lind O, Boman H, Knappskog PM, Rødahl E
Am J Ophthalmol 2015 May;159(5):973-9.e2. Epub 2015 Jan 26 doi: 10.1016/j.ajo.2015.01.021. [Epub ahead of print] PMID: 25634536
Wu JW, Xiao SX, Huo J, An JG, Ren JW
Arch Dermatol Res 2014 Nov;306(9):857-60. Epub 2014 Sep 19 doi: 10.1007/s00403-014-1499-x. [Epub ahead of print] PMID: 25234269
Chen D, Gyllensten U
Cancer Med 2014 Apr;3(2):445-52. Epub 2014 Feb 12 doi: 10.1002/cam4.192. [Epub ahead of print] PMID: 24520070Free PMC Article
Yin HF, Fang XY, Jin CF, Yin JF, Li JY, Zhao SJ, Miao Q, Song FW
J Zhejiang Univ Sci B 2014 Jan;15(1):43-50. doi: 10.1631/jzus.B1300053. PMID: 24390743Free PMC Article
Ben Salah G, Salem IH, Masmoudi A, Ben Rhouma B, Turki H, Fakhfakh F, Ayadi H, Kamoun H
J Eur Acad Dermatol Venereol 2014 Oct;28(10):1318-23. Epub 2013 Oct 1 doi: 10.1111/jdv.12279. [Epub ahead of print] PMID: 24118499

Diagnosis

Wu JW, Xiao SX, Huo J, An JG, Ren JW
Arch Dermatol Res 2014 Nov;306(9):857-60. Epub 2014 Sep 19 doi: 10.1007/s00403-014-1499-x. [Epub ahead of print] PMID: 25234269
Ben Salah G, Hadj Salem I, Masmoudi A, Kallabi F, Turki H, Fakhfakh F, Ayadi H, Kamoun H
Mol Biol Rep 2014 Nov;41(11):7373-80. Epub 2014 Aug 17 doi: 10.1007/s11033-014-3624-5. [Epub ahead of print] PMID: 25129257
Rodrigues AL, Carvalho A, Cabral R, Carneiro V, Gilardi P, Duarte CP, Puente-Prieto J, Santos P, Mota-Vieira L
Genet Mol Res 2014 Jul 25;13(3):5654-63. doi: 10.4238/2014.July.25.21. PMID: 25117323
Imtiaz A, Kohrman DC, Naz S
Hum Mutat 2014 May;35(5):618-24. Epub 2014 Apr 7 doi: 10.1002/humu.22545. [Epub ahead of print] PMID: 24619944Free PMC Article
Belet S, Fieremans N, Yuan X, Van Esch H, Verbeeck J, Ye Z, Cheng L, Brodsky BR, Hu H, Kalscheuer VM, Brodsky RA, Froyen G
Hum Mutat 2014 Mar;35(3):350-5. Epub 2014 Jan 13 doi: 10.1002/humu.22498. [Epub ahead of print] PMID: 24357517

Therapy

Bredrup C, Johansson S, Bindoff LA, Sztromwasser P, Kråkenes J, Mellgren AE, Brurås KR, Lind O, Boman H, Knappskog PM, Rødahl E
Am J Ophthalmol 2015 May;159(5):973-9.e2. Epub 2015 Jan 26 doi: 10.1016/j.ajo.2015.01.021. [Epub ahead of print] PMID: 25634536
Villarreal DD, Villarreal H, Paez AM, Peppas D, Lynch J, Roeder E, Powers GC
Am J Med Genet A 2013 Dec;161A(12):3121-5. Epub 2013 Oct 2 doi: 10.1002/ajmg.a.36086. [Epub ahead of print] PMID: 24115482
Seki M, Koh K, Inoue T, Tomita Y, Kato M, Shimizu M, Morishita E, Hanada R
Pediatr Blood Cancer 2013 Mar;60(3):503-5. Epub 2012 Nov 14 doi: 10.1002/pbc.24387. [Epub ahead of print] PMID: 23152198
Tachi N, Takahashi S, Jo M, Shinoda M
Eur J Neurol 2011 Sep;18(9):1191-3. Epub 2011 Jan 31 doi: 10.1111/j.1468-1331.2011.03354.x. [Epub ahead of print] PMID: 21834904
Sakaguchi H, Yamashita S, Miura A, Hirahara T, Kimura E, Maeda Y, Terasaki T, Hirano T, Uchino M
J Neurol 2011 Feb;258(2):284-90. Epub 2010 Sep 21 doi: 10.1007/s00415-010-5752-8. [Epub ahead of print] PMID: 20857133

Prognosis

Rodrigues AL, Carvalho A, Cabral R, Carneiro V, Gilardi P, Duarte CP, Puente-Prieto J, Santos P, Mota-Vieira L
Genet Mol Res 2014 Jul 25;13(3):5654-63. doi: 10.4238/2014.July.25.21. PMID: 25117323
Imtiaz A, Kohrman DC, Naz S
Hum Mutat 2014 May;35(5):618-24. Epub 2014 Apr 7 doi: 10.1002/humu.22545. [Epub ahead of print] PMID: 24619944Free PMC Article
Fyfe JC, Hemker SL, Venta PJ, Fitzgerald CA, Outerbridge CA, Myers SL, Giger U
Mol Genet Metab 2013 Aug;109(4):390-6. Epub 2013 May 22 doi: 10.1016/j.ymgme.2013.05.006. [Epub ahead of print] PMID: 23746554Free PMC Article
Tian M, Mei D, Freri E, Hernandez CC, Granata T, Shen W, Macdonald RL, Guerrini R
Neurobiol Dis 2013 Feb;50:135-41. Epub 2012 Oct 13 doi: 10.1016/j.nbd.2012.10.008. [Epub ahead of print] PMID: 23069679Free PMC Article
Lutful Kabir FM, Agarwal P, Deinnocentes P, Zaman J, Bird AC, Bird RC
J Cell Biochem 2013 Jan;114(1):56-66. doi: 10.1002/jcb.24300. PMID: 22833492

Clinical prediction guides

Rodrigues AL, Carvalho A, Cabral R, Carneiro V, Gilardi P, Duarte CP, Puente-Prieto J, Santos P, Mota-Vieira L
Genet Mol Res 2014 Jul 25;13(3):5654-63. doi: 10.4238/2014.July.25.21. PMID: 25117323
Imtiaz A, Kohrman DC, Naz S
Hum Mutat 2014 May;35(5):618-24. Epub 2014 Apr 7 doi: 10.1002/humu.22545. [Epub ahead of print] PMID: 24619944Free PMC Article
Lesca G, Moizard MP, Bussy G, Boggio D, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Des Portes V, Labalme A, Sanlaville D, Edery P, Raynaud M, Lespinasse J
Am J Med Genet A 2013 Dec;161A(12):3063-71. Epub 2013 Aug 16 doi: 10.1002/ajmg.a.36162. [Epub ahead of print] PMID: 24039113
Fyfe JC, Hemker SL, Venta PJ, Fitzgerald CA, Outerbridge CA, Myers SL, Giger U
Mol Genet Metab 2013 Aug;109(4):390-6. Epub 2013 May 22 doi: 10.1016/j.ymgme.2013.05.006. [Epub ahead of print] PMID: 23746554Free PMC Article
Tian M, Mei D, Freri E, Hernandez CC, Granata T, Shen W, Macdonald RL, Guerrini R
Neurobiol Dis 2013 Feb;50:135-41. Epub 2012 Oct 13 doi: 10.1016/j.nbd.2012.10.008. [Epub ahead of print] PMID: 23069679Free PMC Article

Recent systematic reviews

Amaral MD
J Intern Med 2015 Feb;277(2):155-66. doi: 10.1111/joim.12314. PMID: 25266997
Auer PL, Teumer A, Schick U, O'Shaughnessy A, Lo KS, Chami N, Carlson C, de Denus S, Dubé MP, Haessler J, Jackson RD, Kooperberg C, Perreault LP, Nauck M, Peters U, Rioux JD, Schmidt F, Turcot V, Völker U, Völzke H, Greinacher A, Hsu L, Tardif JC, Diaz GA, Reiner AP, Lettre G
Nat Genet 2014 Jun;46(6):629-34. Epub 2014 Apr 28 doi: 10.1038/ng.2962. [Epub ahead of print] PMID: 24777453Free PMC Article
Lloyd RE, McGeehan JE
PLoS One 2013;8(7):e69003. Epub 2013 Jul 9 doi: 10.1371/journal.pone.0069003. PMID: 23874847Free PMC Article
Marangi G, Leuzzi V, Manti F, Lattante S, Orteschi D, Pecile V, Neri G, Zollino M
Eur J Hum Genet 2013 Feb;21(2):229-32. Epub 2012 May 2 doi: 10.1038/ejhg.2012.79. [Epub ahead of print] PMID: 22549410Free PMC Article
Brems H, Pasmant E, Van Minkelen R, Wimmer K, Upadhyaya M, Legius E, Messiaen L
Hum Mutat 2012 Nov;33(11):1538-46. Epub 2012 Aug 1 doi: 10.1002/humu.22152. [Epub ahead of print] PMID: 22753041

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