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KDM2B Gene Mutation

MedGen UID:
1668888
•Concept ID:
C4727119
•
Cell or Molecular Dysfunction
Synonyms: CXXC2 Gene Mutation; F-Box and Leucine-Rich Repeat Protein 10 Gene Mutation; Fbl10 Gene Mutation; FBXL10 Gene Mutation; JEMMA (Jumonji Domain, EMSY-Interactor, Methyltransferase Motif) Protein Gene Mutation; JHDM1B Gene Mutation; Lysine (K)-Specific Demethylase 2B Gene Mutation; Lysine Specific Demethylase 2B Gene Mutation; PCCX2 Gene Mutation

Definition

A change in the nucleotide sequence of the KDM2B gene. [from NCI]

Recent clinical studies

Etiology

KDM2B regulates hippocampal morphogenesis by transcriptionally silencing Wnt signaling in neural progenitors.
Zhang B, Zhao C, Shen W, Li W, Zheng Y, Kong X, Wang J, Wu X, Zeng T, Liu Y, Zhou Y
Nat Commun 2023 Oct 14;14(1):6489. doi: 10.1038/s41467-023-42322-2. PMID: 37838801Free 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
Emerging role of noncanonical polycomb repressive complexes in normal and malignant hematopoiesis.
Isshiki Y, Iwama A
Exp Hematol 2018 Dec;68:10-14. Epub 2018 Oct 26 doi: 10.1016/j.exphem.2018.10.008. PMID: 30554637
Epigenetics in myelodysplastic syndromes.
Heuser M, Yun H, Thol F
Semin Cancer Biol 2018 Aug;51:170-179. Epub 2017 Aug 2 doi: 10.1016/j.semcancer.2017.07.009. PMID: 28778402Free PMC Article
Clarifying the impact of polycomb complex component disruption in human cancers.
Yamamoto Y, Abe A, Emi N
Mol Cancer Res 2014 Apr;12(4):479-84. Epub 2014 Feb 10 doi: 10.1158/1541-7786.MCR-13-0596. PMID: 24515802

Diagnosis

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
van Jaarsveld RH, Reilly J, Cornips MC, Hadders MA, Agolini E, Ahimaz P, Anyane-Yeboa K, Bellanger SA, van Binsbergen E, van den Boogaard MJ, Brischoux-Boucher E, Caylor RC, Ciolfi A, van Essen TAJ, Fontana P, Hopman S, Iascone M, Javier MM, Kamsteeg EJ, Kerkhof J, Kido J, Kim HG, Kleefstra T, Lonardo F, Lai A, Lev D, Levy MA, Lewis MES, Lichty A, Mannens MMAM, Matsumoto N, Maya I, McConkey H, Megarbane A, Michaud V, Miele E, Niceta M, Novelli A, Onesimo R, Pfundt R, Popp B, Prijoles E, Relator R, Redon S, Rots D, Rouault K, Saida K, Schieving J, Tartaglia M, Tenconi R, Uguen K, Verbeek N, Walsh CA, Yosovich K, Yuskaitis CJ, Zampino G, Sadikovic B, Alders M, Oegema R
Genet Med 2023 Jan;25(1):49-62. Epub 2022 Nov 1 doi: 10.1016/j.gim.2022.09.006. PMID: 36322151Free PMC Article
De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.
Hiraide T, Nakashima M, Yamoto K, Fukuda T, Kato M, Ikeda H, Sugie Y, Aoto K, Kaname T, Nakabayashi K, Ogata T, Matsumoto N, Saitsu H
Hum Genet 2018 Jan;137(1):95-104. Epub 2018 Jan 10 doi: 10.1007/s00439-017-1863-y. PMID: 29322246
Clarifying the impact of polycomb complex component disruption in human cancers.
Yamamoto Y, Abe A, Emi N
Mol Cancer Res 2014 Apr;12(4):479-84. Epub 2014 Feb 10 doi: 10.1158/1541-7786.MCR-13-0596. PMID: 24515802

Therapy

Multi-CpG linear regression models to accurately predict paclitaxel and docetaxel activity in cancer cell lines.
Bacolod MD, Fisher PB, Barany F
Adv Cancer Res 2023;158:233-292. Epub 2022 Dec 29 doi: 10.1016/bs.acr.2022.12.005. PMID: 36990534
Circulating tumor DNA predicts response in Chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab.
Shi Y, Su H, Song Y, Jiang W, Sun X, Qian W, Zhang W, Gao Y, Jin Z, Zhou J, Jin C, Zou L, Qiu L, Li W, Yang J, Hou M, Xiong Y, Zhou H, Du X, Wang X, Peng B
EBioMedicine 2020 Apr;54:102731. doi: 10.1016/j.ebiom.2020.102731. PMID: 32304999Free PMC Article

Prognosis

Multi-CpG linear regression models to accurately predict paclitaxel and docetaxel activity in cancer cell lines.
Bacolod MD, Fisher PB, Barany F
Adv Cancer Res 2023;158:233-292. Epub 2022 Dec 29 doi: 10.1016/bs.acr.2022.12.005. PMID: 36990534
Circulating tumor DNA predicts response in Chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab.
Shi Y, Su H, Song Y, Jiang W, Sun X, Qian W, Zhang W, Gao Y, Jin Z, Zhou J, Jin C, Zou L, Qiu L, Li W, Yang J, Hou M, Xiong Y, Zhou H, Du X, Wang X, Peng B
EBioMedicine 2020 Apr;54:102731. doi: 10.1016/j.ebiom.2020.102731. PMID: 32304999Free PMC Article
Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors.
Sohier P, Luscan A, Lloyd A, Ashelford K, Laurendeau I, Briand-Suleau A, Vidaud D, Ortonne N, Pasmant E, Upadhyaya M
Genes Chromosomes Cancer 2017 May;56(5):421-426. Epub 2017 Mar 7 doi: 10.1002/gcc.22446. PMID: 28124441
Clarifying the impact of polycomb complex component disruption in human cancers.
Yamamoto Y, Abe A, Emi N
Mol Cancer Res 2014 Apr;12(4):479-84. Epub 2014 Feb 10 doi: 10.1158/1541-7786.MCR-13-0596. PMID: 24515802

Clinical prediction guides

Multi-CpG linear regression models to accurately predict paclitaxel and docetaxel activity in cancer cell lines.
Bacolod MD, Fisher PB, Barany F
Adv Cancer Res 2023;158:233-292. Epub 2022 Dec 29 doi: 10.1016/bs.acr.2022.12.005. PMID: 36990534
Dysregulations of Expression of Genes of the Ubiquitin/SUMO Pathways in an In Vitro Model of Amyotrophic Lateral Sclerosis Combining Oxidative Stress and SOD1 Gene Mutation.
Dangoumau A, Marouillat S, Coelho R, Wurmser F, Brulard C, Haouari S, Laumonnier F, Corcia P, Andres CR, Blasco H, Vourc'h P
Int J Mol Sci 2021 Feb 11;22(4) doi: 10.3390/ijms22041796. PMID: 33670299Free PMC Article
Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophrenia.
Yokotsuka-Ishida S, Nakamura M, Tomiyasu Y, Nagai M, Kato Y, Tomiyasu A, Umehara H, Hayashi T, Sasaki N, Ueno SI, Sano A
J Hum Genet 2021 Jun;66(6):597-606. Epub 2021 Jan 6 doi: 10.1038/s10038-020-00889-4. PMID: 33402700
Circulating tumor DNA predicts response in Chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab.
Shi Y, Su H, Song Y, Jiang W, Sun X, Qian W, Zhang W, Gao Y, Jin Z, Zhou J, Jin C, Zou L, Qiu L, Li W, Yang J, Hou M, Xiong Y, Zhou H, Du X, Wang X, Peng B
EBioMedicine 2020 Apr;54:102731. doi: 10.1016/j.ebiom.2020.102731. PMID: 32304999Free PMC Article
Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors.
Sohier P, Luscan A, Lloyd A, Ashelford K, Laurendeau I, Briand-Suleau A, Vidaud D, Ortonne N, Pasmant E, Upadhyaya M
Genes Chromosomes Cancer 2017 May;56(5):421-426. Epub 2017 Mar 7 doi: 10.1002/gcc.22446. PMID: 28124441

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