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Frameshift Mutation

MedGen UID:
86908
•Concept ID:
C0079380
•
Cell or Molecular Dysfunction
Synonyms: Frame Shift Mutation; Frame Shift Mutations; 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 mutation occurring within the protein-coding region of a gene which results in a shift in the reading frame of the encoded protein. Frameshift mutations often result in the premature truncation of a gene product. [from NCI]

Professional guidelines

PubMed

A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies.
Yuan M, Zheng X, Xue Y, He Z, Song G, Song Y
Oral Dis 2023 Sep;29(6):2394-2400. Epub 2023 Jan 13 doi: 10.1111/odi.14494. PMID: 36597617
Withdrawal: A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies.
Oral Dis 2023 Mar;29(2):855. Epub 2023 Jan 2 doi: 10.1111/odi.14431. PMID: 36346235
Resistance evolution of hypervirulent carbapenem-resistant Klebsiella pneumoniae ST11 during treatment with tigecycline and polymyxin.
Jin X, Chen Q, Shen F, Jiang Y, Wu X, Hua X, Fu Y, Yu Y
Emerg Microbes Infect 2021 Dec;10(1):1129-1136. doi: 10.1080/22221751.2021.1937327. PMID: 34074225Free PMC Article

Recent clinical studies

Etiology

Frameshift mutations in peripheral blood as a biomarker for surveillance of Lynch syndrome.
Song Y, Loomans-Kropp H, Baugher RN, Somerville B, Baxter SS, Kerr TD, Plona TM, Mellott SD, Young TB, Lawhorn HE, Wei L, Hu Q, Liu S, Hutson A, Pinto L, Potter JD, Sei S, Gelincik O, Lipkin SM, Gebert J, Kloor M, Shoemaker RH
J Natl Cancer Inst 2024 Jun 7;116(6):957-965. doi: 10.1093/jnci/djae060. PMID: 38466935Free PMC Article
Enrichment of Motilin Receptor Loss-of-Function Variants in Gastroparesis.
Smieszek SP, Carlin JL, Xiao C, Birznieks G, Polymeropoulos CM, Polymeropoulos MH
Clin Transl Gastroenterol 2022 Apr 1;13(4):e00474. doi: 10.14309/ctg.0000000000000474. PMID: 35297797Free PMC Article
Mutation and expression alterations of histone methylation-related NSD2, KDM2B and SETMAR genes in colon cancers.
Moon SW, Son HJ, Mo HY, Choi EJ, Yoo NJ, Lee SH
Pathol Res Pract 2021 Mar;219:153354. Epub 2021 Feb 1 doi: 10.1016/j.prp.2021.153354. PMID: 33621919
The genetics of migraine and the path to precision medicine.
Cader MZ
Prog Brain Res 2020;255:403-418. Epub 2020 Aug 25 doi: 10.1016/bs.pbr.2020.06.008. PMID: 33008515
Nephrogenic diabetes insipidus.
Knoers NV, Monnens LL
Semin Nephrol 1999 Jul;19(4):344-52. PMID: 10435672

Diagnosis

Frameshift mutations in peripheral blood as a biomarker for surveillance of Lynch syndrome.
Song Y, Loomans-Kropp H, Baugher RN, Somerville B, Baxter SS, Kerr TD, Plona TM, Mellott SD, Young TB, Lawhorn HE, Wei L, Hu Q, Liu S, Hutson A, Pinto L, Potter JD, Sei S, Gelincik O, Lipkin SM, Gebert J, Kloor M, Shoemaker RH
J Natl Cancer Inst 2024 Jun 7;116(6):957-965. doi: 10.1093/jnci/djae060. PMID: 38466935Free PMC Article
A homozygous KASH5 frameshift mutation causes diminished ovarian reserve, recurrent miscarriage, and non-obstructive azoospermia in humans.
Hou X, Zeb A, Dil S, Zhou J, Zhang H, Shi B, Muhammad Z, Khan I, Zaman Q, Shah WA, Jiang X, Wu L, Ma H, Shi Q
Front Endocrinol (Lausanne) 2023;14:1128362. Epub 2023 Feb 14 doi: 10.3389/fendo.2023.1128362. PMID: 36864840Free PMC Article
A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies.
Yuan M, Zheng X, Xue Y, He Z, Song G, Song Y
Oral Dis 2023 Sep;29(6):2394-2400. Epub 2023 Jan 13 doi: 10.1111/odi.14494. PMID: 36597617
Familial Pallister-Hall in adulthood.
Talsania M, Sharma R, Sughrue ME, Scofield RH, Lim J
Neuro Endocrinol Lett 2017 Oct;38(5):329-331. PMID: 29106787
Frameshift mutation of WISP3 gene and its regional heterogeneity in gastric and colorectal cancers.
Lee JH, Choi YJ, Je EM, Kim HS, Yoo NJ, Lee SH
Hum Pathol 2016 Apr;50:146-52. Epub 2015 Dec 30 doi: 10.1016/j.humpath.2015.12.009. PMID: 26997449

Therapy

Genomic Landscape of Lynch Syndrome Colorectal Neoplasia Identifies Shared Mutated Neoantigens for Immunoprevention.
Bolivar AM, Duzagac F, Deng N, Reyes-Uribe L, Chang K, Wu W, Bowen CM, Taggart MW, Thirumurthi S, Lynch PM, You YN, Rodriguez-Pascual J, Lipkin SM, Kopetz S, Scheet P, Lizee GA, Reuben A, Sinha KM, Vilar E
Gastroenterology 2024 May;166(5):787-801.e11. Epub 2024 Jan 18 doi: 10.1053/j.gastro.2024.01.016. PMID: 38244726Free PMC Article
Lynch Syndrome and MSI-H Cancers: From Mechanisms to "Off-The-Shelf" Cancer Vaccines.
Roudko V, Cimen Bozkus C, Greenbaum B, Lucas A, Samstein R, Bhardwaj N
Front Immunol 2021;12:757804. Epub 2021 Sep 24 doi: 10.3389/fimmu.2021.757804. PMID: 34630437Free PMC Article
Resistance evolution of hypervirulent carbapenem-resistant Klebsiella pneumoniae ST11 during treatment with tigecycline and polymyxin.
Jin X, Chen Q, Shen F, Jiang Y, Wu X, Hua X, Fu Y, Yu Y
Emerg Microbes Infect 2021 Dec;10(1):1129-1136. doi: 10.1080/22221751.2021.1937327. PMID: 34074225Free PMC Article
Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy.
Dvela-Levitt M, Kost-Alimova M, Emani M, Kohnert E, Thompson R, Sidhom EH, Rivadeneira A, Sahakian N, Roignot J, Papagregoriou G, Montesinos MS, Clark AR, McKinney D, Gutierrez J, Roth M, Ronco L, Elonga E, Carter TA, Gnirke A, Melanson M, Hartland K, Wieder N, Hsu JC, Deltas C, Hughey R, Bleyer AJ, Kmoch S, Živná M, Barešova V, Kota S, Schlondorff J, Heiman M, Alper SL, Wagner F, Weins A, Golub TR, Lander ES, Greka A
Cell 2019 Jul 25;178(3):521-535.e23. doi: 10.1016/j.cell.2019.07.002. PMID: 31348885
INPPL1 gene mutations in opsismodysplasia.
Fradet A, Fitzgerald J
J Hum Genet 2017 Feb;62(2):135-140. Epub 2016 Oct 6 doi: 10.1038/jhg.2016.119. PMID: 27708270Free PMC Article

Prognosis

A novel frameshift mutation in DNAH6 associated with male infertility and asthenoteratozoospermia.
Huang F, Zeng J, Liu D, Zhang J, Liang B, Gao J, Yan R, Shi X, Chen J, Song W, Huang HL
Front Endocrinol (Lausanne) 2023;14:1122004. Epub 2023 Jun 22 doi: 10.3389/fendo.2023.1122004. PMID: 37424858Free PMC Article
A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies.
Yuan M, Zheng X, Xue Y, He Z, Song G, Song Y
Oral Dis 2023 Sep;29(6):2394-2400. Epub 2023 Jan 13 doi: 10.1111/odi.14494. PMID: 36597617
Correlations between microsatellite instability and the biological behaviour of tumours.
Yang G, Zheng RY, Jin ZS
J Cancer Res Clin Oncol 2019 Dec;145(12):2891-2899. Epub 2019 Oct 15 doi: 10.1007/s00432-019-03053-4. PMID: 31617076Free PMC Article
Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families.
Amirian A, Zafari Z, Karimipoor M, Kordafshari A, Dalili M, Saber S, Farjam Fazelifar A, Zeinali S
Iran Biomed J 2019 May;23(3):228-34. Epub 2019 Feb 24 doi: 10.29252/.23.3.228. PMID: 30797226Free PMC Article
Frameshift mutation of WISP3 gene and its regional heterogeneity in gastric and colorectal cancers.
Lee JH, Choi YJ, Je EM, Kim HS, Yoo NJ, Lee SH
Hum Pathol 2016 Apr;50:146-52. Epub 2015 Dec 30 doi: 10.1016/j.humpath.2015.12.009. PMID: 26997449

Clinical prediction guides

A novel frameshift mutation in DNAH6 associated with male infertility and asthenoteratozoospermia.
Huang F, Zeng J, Liu D, Zhang J, Liang B, Gao J, Yan R, Shi X, Chen J, Song W, Huang HL
Front Endocrinol (Lausanne) 2023;14:1122004. Epub 2023 Jun 22 doi: 10.3389/fendo.2023.1122004. PMID: 37424858Free PMC Article
A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies.
Yuan M, Zheng X, Xue Y, He Z, Song G, Song Y
Oral Dis 2023 Sep;29(6):2394-2400. Epub 2023 Jan 13 doi: 10.1111/odi.14494. PMID: 36597617
A snapshot of some pLI score pitfalls.
Ziegler A, Colin E, Goudenège D, Bonneau D
Hum Mutat 2019 Jul;40(7):839-841. Epub 2019 Apr 29 doi: 10.1002/humu.23763. PMID: 30977936
Integrative Analyses of Colorectal Cancer Show Immunoscore Is a Stronger Predictor of Patient Survival Than Microsatellite Instability.
Mlecnik B, Bindea G, Angell HK, Maby P, Angelova M, Tougeron D, Church SE, Lafontaine L, Fischer M, Fredriksen T, Sasso M, Bilocq AM, Kirilovsky A, Obenauf AC, Hamieh M, Berger A, Bruneval P, Tuech JJ, Sabourin JC, Le Pessot F, Mauillon J, Rafii A, Laurent-Puig P, Speicher MR, Trajanoski Z, Michel P, Sesboüe R, Frebourg T, Pagès F, Valge-Archer V, Latouche JB, Galon J
Immunity 2016 Mar 15;44(3):698-711. doi: 10.1016/j.immuni.2016.02.025. PMID: 26982367
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, Guo SL, He J, Chen YF, Zhang QJ, Li HF, Lin Y, Murong SX, Xu J, Wang N, Wu ZY
Nat Genet 2011 Nov 20;43(12):1252-5. doi: 10.1038/ng.1008. PMID: 22101681

Recent systematic reviews

A frameshift mutation in the SCNN1B gene in a family with Liddle syndrome: A case report and systematic review.
Lu Y, Liu X, Sun L, Zhang D, Fan P, Yang K, Zhang L, Liu Y, Zhou X
Mol Med Rep 2024 Feb;29(2) Epub 2023 Dec 15 doi: 10.3892/mmr.2023.13142. PMID: 38099339Free PMC Article
New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review.
Jönsson ÅLM, Hilberg O, Simonsen U, Christensen JH, Bendstrup E
Orphanet J Rare Dis 2023 May 31;18(1):130. doi: 10.1186/s13023-023-02712-7. PMID: 37259144Free PMC Article
PHIP gene variants with protein modeling, interactions, and clinical phenotypes.
Dietrich J, Lovell S, Veatch OJ, Butler MG
Am J Med Genet A 2022 Feb;188(2):579-589. Epub 2021 Nov 13 doi: 10.1002/ajmg.a.62557. PMID: 34773373
Familial Colorectal Cancer Type X (FCCTX) and the correlation with various genes-A systematic review.
Nejadtaghi M, Jafari H, Farrokhi E, Samani KG
Curr Probl Cancer 2017 Nov-Dec;41(6):388-397. Epub 2017 Oct 18 doi: 10.1016/j.currproblcancer.2017.10.002. PMID: 29096939
The effect of CCR5Δ32 on the risk of grade 3-4 acute graft-versus-host disease after allogeneic hematopoietic stem cell transplantation: A systematic review and meta-analysis.
Niu JW, Pan T, Zhang B, Chen H
Clin Transplant 2017 Nov;31(11) Epub 2017 Oct 15 doi: 10.1111/ctr.13095. PMID: 28862353

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