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Truncation Mutation

MedGen UID:
1667456
•Concept ID:
C4725182
•
Cell or Molecular Dysfunction
Synonym: Feature Truncation

Definition

The mutation of either a splice site or stop codon that leads to a truncated transcript. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTruncation Mutation

Professional guidelines

PubMed

Somatic mutations of MLL4/COMPASS induce cytoplasmic localization providing molecular insight into cancer prognosis and treatment.
Zhao Z, Aoi Y, Philips CN, Meghani KA, Gold SR, Yu Y, John LS, Qian J, Zeidner JM, Meeks JJ, Shilatifard A
Proc Natl Acad Sci U S A 2023 Dec 26;120(52):e2310063120. Epub 2023 Dec 19 doi: 10.1073/pnas.2310063120. PMID: 38113256Free PMC Article
The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.
Kim HJ, Yang D, Kim SH, Kim B, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC
Epileptic Disord 2020 Oct 1;22(5):563-570. doi: 10.1684/epd.2020.1199. PMID: 33000761
Mutation, drift and selection in single-driver hematologic malignancy: Example of secondary myelodysplastic syndrome following treatment of inherited neutropenia.
Wojdyla T, Mehta H, Glaubach T, Bertolusso R, Iwanaszko M, Braun R, Corey SJ, Kimmel M
PLoS Comput Biol 2019 Jan;15(1):e1006664. Epub 2019 Jan 7 doi: 10.1371/journal.pcbi.1006664. PMID: 30615612Free PMC Article

Recent clinical studies

Etiology

Interaction analysis between germline genetic variants and somatic mutations in head and neck cancer.
Feng G, Feng H, Qi Y, Wang T, Ni N, Wu J, Yuan H
Oral Oncol 2022 May;128:105859. Epub 2022 Apr 12 doi: 10.1016/j.oraloncology.2022.105859. PMID: 35428027
Endolysosome and autophagy dysfunction in Alzheimer disease.
Hung C, Livesey FJ
Autophagy 2021 Nov;17(11):3882-3883. Epub 2021 Aug 25 doi: 10.1080/15548627.2021.1963630. PMID: 34429033Free PMC Article
FATC Domain Deletion Compromises ATM Protein Stability, Blocks Lymphocyte Development, and Promotes Lymphomagenesis.
Milanovic M, Shao Z, Estes VM, Wang XS, Menolfi D, Lin X, Lee BJ, Xu J, Cupo OM, Wang D, Zha S
J Immunol 2021 Mar 15;206(6):1228-1239. Epub 2021 Feb 3 doi: 10.4049/jimmunol.2000967. PMID: 33536256Free PMC Article
The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.
Kim HJ, Yang D, Kim SH, Kim B, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC
Epileptic Disord 2020 Oct 1;22(5):563-570. doi: 10.1684/epd.2020.1199. PMID: 33000761
Aberrant regulation of DNA methylation in amyotrophic lateral sclerosis: a new target of disease mechanisms.
Martin LJ, Wong M
Neurotherapeutics 2013 Oct;10(4):722-33. doi: 10.1007/s13311-013-0205-6. PMID: 23900692Free PMC Article

Diagnosis

MIG6 Mediates Adaptive and Acquired Resistance to ALK/ROS1 Fusion Kinase Inhibition through EGFR Bypass Signaling.
Chen N, Tyler LC, Le AT, Welsh EA, Fang B, Elliott A, Davies KD, Danhorn T, Riely GJ, Ladanyi M, Haura EB, Doebele RC
Mol Cancer Ther 2024 Jan 3;23(1):92-105. doi: 10.1158/1535-7163.MCT-23-0218. PMID: 37748191Free PMC Article
Somatic mutations of MLL4/COMPASS induce cytoplasmic localization providing molecular insight into cancer prognosis and treatment.
Zhao Z, Aoi Y, Philips CN, Meghani KA, Gold SR, Yu Y, John LS, Qian J, Zeidner JM, Meeks JJ, Shilatifard A
Proc Natl Acad Sci U S A 2023 Dec 26;120(52):e2310063120. Epub 2023 Dec 19 doi: 10.1073/pnas.2310063120. PMID: 38113256Free PMC Article
Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.
Nishiuchi S, Makiyama T, Aiba T, Nakajima K, Hirose S, Kohjitani H, Yamamoto Y, Harita T, Hayano M, Wuriyanghai Y, Chen J, Sasaki K, Yagihara N, Ishikawa T, Onoue K, Murakoshi N, Watanabe I, Ohkubo K, Watanabe H, Ohno S, Doi T, Shizuta S, Minamino T, Saito Y, Oginosawa Y, Nogami A, Aonuma K, Kusano K, Makita N, Shimizu W, Horie M, Kimura T
Circ Cardiovasc Genet 2017 Dec;10(6) doi: 10.1161/CIRCGENETICS.116.001603. PMID: 29237675
A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus.
Rao Y, Dong S, Li Z, Yang G, Peng C, Yan M, Zheng F
Mol Vis 2017;23:624-637. Epub 2017 Sep 1 PMID: 28928627Free PMC Article
Aberrant regulation of DNA methylation in amyotrophic lateral sclerosis: a new target of disease mechanisms.
Martin LJ, Wong M
Neurotherapeutics 2013 Oct;10(4):722-33. doi: 10.1007/s13311-013-0205-6. PMID: 23900692Free PMC Article

Therapy

BNC1 deficiency induces mitochondrial dysfunction-triggered spermatogonia apoptosis through the CREB/SIRT1/FOXO3 pathway: the therapeutic potential of nicotinamide riboside and metformin†.
Ni F, Wang F, Li J, Liu Y, Sun X, Chen J, Li J, Zhang Y, Jin J, Ye X, Tu M, Chen J, Chen C, Zhang D
Biol Reprod 2024 Mar 13;110(3):615-631. doi: 10.1093/biolre/ioad168. PMID: 38079523
MIG6 Mediates Adaptive and Acquired Resistance to ALK/ROS1 Fusion Kinase Inhibition through EGFR Bypass Signaling.
Chen N, Tyler LC, Le AT, Welsh EA, Fang B, Elliott A, Davies KD, Danhorn T, Riely GJ, Ladanyi M, Haura EB, Doebele RC
Mol Cancer Ther 2024 Jan 3;23(1):92-105. doi: 10.1158/1535-7163.MCT-23-0218. PMID: 37748191Free PMC Article
Efficacy and safety of anti-PD-1-based therapy in combination with PARP inhibitors for patients with advanced solid tumors in a real-world setting.
Wu Z, Tao H, Zhang S, Wang X, Ma J, Li R, Liu Z, Wang J, Cui P, Chen S, Di H, Huang Z, Zheng X, Hu Y
Cancer Immunol Immunother 2021 Oct;70(10):2971-2980. Epub 2021 Mar 19 doi: 10.1007/s00262-021-02852-4. PMID: 33740125Free PMC Article
γ-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.
Hao Z, Jin DY, Chen X, Schurgers LJ, Stafford DW, Tie JK
Blood 2021 Jan 28;137(4):533-543. doi: 10.1182/blood.2020006329. PMID: 33507293Free PMC Article
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.
Wormser O, Gradstein L, Yogev Y, Perez Y, Kadir R, Goliand I, Sadka Y, El Riati S, Flusser H, Nachmias D, Birk R, Iraqi M, Kadar E, Gat R, Drabkin M, Halperin D, Horev A, Sivan S, Abdu U, Elia N, Birk OS
Eur J Hum Genet 2019 Jun;27(6):928-940. Epub 2019 Feb 5 doi: 10.1038/s41431-019-0347-z. PMID: 30723319Free PMC Article

Prognosis

MIG6 Mediates Adaptive and Acquired Resistance to ALK/ROS1 Fusion Kinase Inhibition through EGFR Bypass Signaling.
Chen N, Tyler LC, Le AT, Welsh EA, Fang B, Elliott A, Davies KD, Danhorn T, Riely GJ, Ladanyi M, Haura EB, Doebele RC
Mol Cancer Ther 2024 Jan 3;23(1):92-105. doi: 10.1158/1535-7163.MCT-23-0218. PMID: 37748191Free PMC Article
Somatic mutations of MLL4/COMPASS induce cytoplasmic localization providing molecular insight into cancer prognosis and treatment.
Zhao Z, Aoi Y, Philips CN, Meghani KA, Gold SR, Yu Y, John LS, Qian J, Zeidner JM, Meeks JJ, Shilatifard A
Proc Natl Acad Sci U S A 2023 Dec 26;120(52):e2310063120. Epub 2023 Dec 19 doi: 10.1073/pnas.2310063120. PMID: 38113256Free PMC Article
The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.
Kim HJ, Yang D, Kim SH, Kim B, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC
Epileptic Disord 2020 Oct 1;22(5):563-570. doi: 10.1684/epd.2020.1199. PMID: 33000761
Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.
Nishiuchi S, Makiyama T, Aiba T, Nakajima K, Hirose S, Kohjitani H, Yamamoto Y, Harita T, Hayano M, Wuriyanghai Y, Chen J, Sasaki K, Yagihara N, Ishikawa T, Onoue K, Murakoshi N, Watanabe I, Ohkubo K, Watanabe H, Ohno S, Doi T, Shizuta S, Minamino T, Saito Y, Oginosawa Y, Nogami A, Aonuma K, Kusano K, Makita N, Shimizu W, Horie M, Kimura T
Circ Cardiovasc Genet 2017 Dec;10(6) doi: 10.1161/CIRCGENETICS.116.001603. PMID: 29237675
A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus.
Rao Y, Dong S, Li Z, Yang G, Peng C, Yan M, Zheng F
Mol Vis 2017;23:624-637. Epub 2017 Sep 1 PMID: 28928627Free PMC Article

Clinical prediction guides

MIG6 Mediates Adaptive and Acquired Resistance to ALK/ROS1 Fusion Kinase Inhibition through EGFR Bypass Signaling.
Chen N, Tyler LC, Le AT, Welsh EA, Fang B, Elliott A, Davies KD, Danhorn T, Riely GJ, Ladanyi M, Haura EB, Doebele RC
Mol Cancer Ther 2024 Jan 3;23(1):92-105. doi: 10.1158/1535-7163.MCT-23-0218. PMID: 37748191Free PMC Article
Somatic mutations of MLL4/COMPASS induce cytoplasmic localization providing molecular insight into cancer prognosis and treatment.
Zhao Z, Aoi Y, Philips CN, Meghani KA, Gold SR, Yu Y, John LS, Qian J, Zeidner JM, Meeks JJ, Shilatifard A
Proc Natl Acad Sci U S A 2023 Dec 26;120(52):e2310063120. Epub 2023 Dec 19 doi: 10.1073/pnas.2310063120. PMID: 38113256Free PMC Article
The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.
Kim HJ, Yang D, Kim SH, Kim B, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC
Epileptic Disord 2020 Oct 1;22(5):563-570. doi: 10.1684/epd.2020.1199. PMID: 33000761
A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus.
Rao Y, Dong S, Li Z, Yang G, Peng C, Yan M, Zheng F
Mol Vis 2017;23:624-637. Epub 2017 Sep 1 PMID: 28928627Free PMC Article
A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.
Huang X, Wang N, Xiao X, Li S, Zhang Q
Eye (Lond) 2015 Jul;29(7):972-7. Epub 2015 May 15 doi: 10.1038/eye.2015.74. PMID: 25976645Free PMC Article

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