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Mixed Nucleotide Abnormalities

MedGen UID:
311013
•Concept ID:
C1709051
•
Cell or Molecular Dysfunction
Synonyms: Mixed Mutations; Mixed Nucleotide Mutations

Definition

Point mutations at various locations in a DNA sequence from eukaryotic or prokaryotic organisms in which a nucleotide substitution, deletion or insertion has occurred at each affected site. These abnormalities can be either heritable or occur somatically. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMixed Nucleotide Abnormalities

Professional guidelines

PubMed

Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort.
Chen ZX, Jia WN, Sun Y, Jiang YX
Gene 2024 Oct 20;925:148600. Epub 2024 May 23 doi: 10.1016/j.gene.2024.148600. PMID: 38788814
Genetic and Oral Tests for the Diagnosis of Lactose Intolerance in Mixed-Ancestry Brazilians with Metabolic Syndrome.
Araujo EM, Dos Santos L, Coutinho R, Assis V, Brandão N, Almeida D, Conceição G, Figueredo C, Fonseca H, Lima ML, Lemaire D, Rios D
Lifestyle Genom 2019;12(1-6):1-9. Epub 2019 Jul 26 doi: 10.1159/000501690. PMID: 31352438
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
Weerakkody RA, Vandrovcova J, Kanonidou C, Mueller M, Gampawar P, Ibrahim Y, Norsworthy P, Biggs J, Abdullah A, Ross D, Black HA, Ferguson D, Cheshire NJ, Kazkaz H, Grahame R, Ghali N, Vandersteen A, Pope FM, Aitman TJ
Genet Med 2016 Nov;18(11):1119-1127. Epub 2016 Mar 24 doi: 10.1038/gim.2016.14. PMID: 27011056

Recent clinical studies

Etiology

Shared Genetic Architecture between Parkinson's Disease and Brain Structural Phenotypes.
Ma DR, Li SJ, Shi JJ, Liang YY, Hu ZW, Hao XY, Li MJ, Guo MN, Zuo CY, Yu WK, Mao CY, Tang MB, Zhang C, Xu YM, Wu J, Sun SL, Shi CH
Mov Disord 2023 Dec;38(12):2258-2268. Epub 2023 Nov 21 doi: 10.1002/mds.29598. PMID: 37990409
Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
Kirkham JK, Estepp JH, Weiss MJ, Rashkin SR
JAMA Netw Open 2023 Oct 2;6(10):e2337484. doi: 10.1001/jamanetworkopen.2023.37484. PMID: 37851445Free PMC Article
Antisense Oligonucleotide Silencing Reverses Abnormal Neurochemistry in Spinocerebellar Ataxia 3 Mice.
McLoughlin HS, Gundry K, Rainwater O, Schuster KH, Wellik IG, Zalon AJ, Benneyworth MA, Eberly LE, Öz G
Ann Neurol 2023 Oct;94(4):658-671. Epub 2023 Aug 2 doi: 10.1002/ana.26713. PMID: 37243335Free PMC Article
Novel Insights Regarding Nitric Oxide and Cardiovascular Diseases.
Infante T, Costa D, Napoli C
Angiology 2021 May;72(5):411-425. Epub 2021 Jan 22 doi: 10.1177/0003319720979243. PMID: 33478246
Zebrafish models of orofacial clefts.
Duncan KM, Mukherjee K, Cornell RA, Liao EC
Dev Dyn 2017 Nov;246(11):897-914. Epub 2017 Sep 25 doi: 10.1002/dvdy.24566. PMID: 28795449Free PMC Article

Diagnosis

Availability and funding of clinical genomic sequencing globally.
Phillips KA, Douglas MP, Wordsworth S, Buchanan J, Marshall DA
BMJ Glob Health 2021 Feb;6(2) doi: 10.1136/bmjgh-2020-004415. PMID: 33574068Free PMC Article
Coexisting well-differentiated and anaplastic thyroid carcinoma in the same primary resection specimen: immunophenotypic and genetic comparison of the two components in a consecutive series of 13 cases and a review of the literature.
Ragazzi M, Torricelli F, Donati B, Ciarrocchi A, de Biase D, Tallini G, Zanetti E, Bisagni A, Kuhn E, Giordano D, Frasoldati A, Piana S
Virchows Arch 2021 Feb;478(2):265-281. Epub 2020 Jul 18 doi: 10.1007/s00428-020-02891-9. PMID: 32683537
Cherchez la femme: maternal incidental findings can explain discordant prenatal cell-free DNA sequencing results.
Bianchi DW
Genet Med 2018 Sep;20(9):910-917. Epub 2017 Dec 7 doi: 10.1038/gim.2017.219. PMID: 29215645Free PMC Article
Cockayne syndrome and xeroderma pigmentosum.
Rapin I, Lindenbaum Y, Dickson DW, Kraemer KH, Robbins JH
Neurology 2000 Nov 28;55(10):1442-9. doi: 10.1212/wnl.55.10.1442. PMID: 11185579Free PMC Article
Correlation of toxicity and pharmacokinetic properties of a phosphorothioate oligonucleotide designed to inhibit ICAM-1.
Henry SP, Templin MV, Gillett N, Rojko J, Levin AA
Toxicol Pathol 1999 Jan-Feb;27(1):95-100. doi: 10.1177/019262339902700117. PMID: 10367680

Therapy

Antisense Oligonucleotide Silencing Reverses Abnormal Neurochemistry in Spinocerebellar Ataxia 3 Mice.
McLoughlin HS, Gundry K, Rainwater O, Schuster KH, Wellik IG, Zalon AJ, Benneyworth MA, Eberly LE, Öz G
Ann Neurol 2023 Oct;94(4):658-671. Epub 2023 Aug 2 doi: 10.1002/ana.26713. PMID: 37243335Free PMC Article
AZD8233 antisense oligonucleotide targeting PCSK9 does not prolong QT interval.
Rekić D, Azarov I, Knöchel J, Sokolov V, Nilsson C, Wernevik L, Han D, Rydén-Bergsten T, Ebrahimi A, Dota C, Carlsson B
Br J Clin Pharmacol 2022 Nov;88(11):4839-4844. Epub 2022 Jun 10 doi: 10.1111/bcp.15425. PMID: 35653229
Alterations in cellular metabolisms after Imatinib therapy: a review.
Kumar V, Singh P, Gupta SK, Ali V, Jyotirmayee, Verma M
Med Oncol 2022 May 16;39(5):95. doi: 10.1007/s12032-022-01699-8. PMID: 35570245
Novel Insights Regarding Nitric Oxide and Cardiovascular Diseases.
Infante T, Costa D, Napoli C
Angiology 2021 May;72(5):411-425. Epub 2021 Jan 22 doi: 10.1177/0003319720979243. PMID: 33478246
cGMP Signaling and Modulation in Heart Failure.
Blanton RM
J Cardiovasc Pharmacol 2020 May;75(5):385-398. doi: 10.1097/FJC.0000000000000749. PMID: 31464774Free PMC Article

Prognosis

Boosting Schizophrenia Genetics by Utilizing Genetic Overlap With Brain Morphology.
van der Meer D, Shadrin AA, O'Connell K, Bettella F, Djurovic S, Wolfers T, Alnæs D, Agartz I, Smeland OB, Melle I, Sánchez JM, Linden DEJ, Dale AM, Westlye LT, Andreassen OA, Frei O, Kaufmann T
Biol Psychiatry 2022 Aug 15;92(4):291-298. Epub 2022 Feb 11 doi: 10.1016/j.biopsych.2021.12.007. PMID: 35164939
Genomic landscape of secretory carcinoma of the breast with axillary lymph node metastasis.
Chen M, Pu T, Wei B, Bu H, Tang P, Zhang Z
Pathol Res Pract 2022 Mar;231:153790. Epub 2022 Jan 29 doi: 10.1016/j.prp.2022.153790. PMID: 35158121
Genome-Wide Association Study (GWAS) of dental caries in diverse populations.
Alotaibi RN, Howe BJ, Chernus JM, Mukhopadhyay N, Sanchez C, Deleyiannis FWB, Neiswanger K, Padilla C, Poletta FA, Orioli IM, Buxó CJ, Hecht JT, Wehby GL, Long RE, Vieira AR, Weinberg SM, Shaffer JR, Moreno Uribe LM, Marazita ML
BMC Oral Health 2021 Jul 26;21(1):377. doi: 10.1186/s12903-021-01670-5. PMID: 34311721Free PMC Article
Coexisting well-differentiated and anaplastic thyroid carcinoma in the same primary resection specimen: immunophenotypic and genetic comparison of the two components in a consecutive series of 13 cases and a review of the literature.
Ragazzi M, Torricelli F, Donati B, Ciarrocchi A, de Biase D, Tallini G, Zanetti E, Bisagni A, Kuhn E, Giordano D, Frasoldati A, Piana S
Virchows Arch 2021 Feb;478(2):265-281. Epub 2020 Jul 18 doi: 10.1007/s00428-020-02891-9. PMID: 32683537
Sperm chromosomal abnormalities and their contribution to human embryo aneuploidy.
Rodrigo L, Meseguer M, Mateu E, Mercader A, Peinado V, Bori L, Campos-Galindo I, Milán M, García-Herrero S, Simón C, Rubio C
Biol Reprod 2019 Dec 24;101(6):1091-1101. doi: 10.1093/biolre/ioz125. PMID: 31318411

Clinical prediction guides

OTULIN haploinsufficiency predisposes to environmentally directed inflammation.
Staels F, Bücken L, De Vuyst L, Willemsen M, Van Nieuwenhove E, Gerbaux M, Neumann J, Malviya V, Van Meerbeeck L, Haughton J, Seldeslachts L, Gouwy M, Martinod K, Vande Velde G, Proost P, Yshii L, Schlenner S, Schrijvers R, Liston A, Humblet-Baron S
Front Immunol 2024;15:983686. Epub 2024 May 21 doi: 10.3389/fimmu.2024.983686. PMID: 38827742Free PMC Article
Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
Kirkham JK, Estepp JH, Weiss MJ, Rashkin SR
JAMA Netw Open 2023 Oct 2;6(10):e2337484. doi: 10.1001/jamanetworkopen.2023.37484. PMID: 37851445Free PMC Article
Coexisting well-differentiated and anaplastic thyroid carcinoma in the same primary resection specimen: immunophenotypic and genetic comparison of the two components in a consecutive series of 13 cases and a review of the literature.
Ragazzi M, Torricelli F, Donati B, Ciarrocchi A, de Biase D, Tallini G, Zanetti E, Bisagni A, Kuhn E, Giordano D, Frasoldati A, Piana S
Virchows Arch 2021 Feb;478(2):265-281. Epub 2020 Jul 18 doi: 10.1007/s00428-020-02891-9. PMID: 32683537
Sperm chromosomal abnormalities and their contribution to human embryo aneuploidy.
Rodrigo L, Meseguer M, Mateu E, Mercader A, Peinado V, Bori L, Campos-Galindo I, Milán M, García-Herrero S, Simón C, Rubio C
Biol Reprod 2019 Dec 24;101(6):1091-1101. doi: 10.1093/biolre/ioz125. PMID: 31318411
Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing.
Dar P, Curnow KJ, Gross SJ, Hall MP, Stosic M, Demko Z, Zimmermann B, Hill M, Sigurjonsson S, Ryan A, Banjevic M, Kolacki PL, Koch SW, Strom CM, Rabinowitz M, Benn P
Am J Obstet Gynecol 2014 Nov;211(5):527.e1-527.e17. Epub 2014 Aug 8 doi: 10.1016/j.ajog.2014.08.006. PMID: 25111587

Recent systematic reviews

Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis.
Marchionni E, Guadagnolo D, Mastromoro G, Pizzuti A
Eur J Hum Genet 2024 Jul;32(7):759-769. Epub 2024 Mar 15 doi: 10.1038/s41431-024-01590-2. PMID: 38486024Free PMC Article
Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
Kirkham JK, Estepp JH, Weiss MJ, Rashkin SR
JAMA Netw Open 2023 Oct 2;6(10):e2337484. doi: 10.1001/jamanetworkopen.2023.37484. PMID: 37851445Free PMC Article
Association of Fetal MTHFR C677T Polymorphism with Susceptibility to Neural Tube Defects: A Systematic Review and Update Meta-Analysis.
Tabatabaei RS, Fatahi-Meibodi N, Meibodi B, Javaheri A, Abbasi H, Hadadan A, Bahrami R, Mirjalili SR, Karimi-Zarchi M, Neamatzadeh H
Fetal Pediatr Pathol 2022 Apr;41(2):225-241. Epub 2020 Jun 14 doi: 10.1080/15513815.2020.1775734. PMID: 32536242
Association of Fetal MTHFR 677C > T Polymorphism with Non-Syndromic Cleft Lip with or without Palate Risk: A Systematic Review and Meta-Analysis.
Amooee A, Dastgheib SA, Niktabar SM, Noorishadkam M, Lookzadeh MH, Mirjalili SR, Heiranizadeh N, Neamatzadeh H
Fetal Pediatr Pathol 2021 Aug;40(4):337-353. Epub 2019 Dec 27 doi: 10.1080/15513815.2019.1707918. PMID: 31880477

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