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Intergenic Mutation

MedGen UID:
1666528
•Concept ID:
C4725183
•
Cell or Molecular Dysfunction
Synonym: Intergenic Variant

Definition

A change in the nucleotide sequence of a region between gene loci. [from NCI]

Term Hierarchy

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

Professional guidelines

PubMed

Expanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss.
Yun Y, Park SS, Lee S, Seok H, Park S, Lee SY
Int J Mol Sci 2023 Dec 3;24(23) doi: 10.3390/ijms242317077. PMID: 38069401Free PMC Article
From Genotype to Phenotype: Through Chromatin.
Romanowska J, Joshi A
Genes (Basel) 2019 Jan 23;10(2) doi: 10.3390/genes10020076. PMID: 30678090Free PMC Article
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
Mannini L, Cucco F, Quarantotti V, Krantz ID, Musio A
Hum Mutat 2013 Dec;34(12):1589-96. Epub 2013 Sep 16 doi: 10.1002/humu.22430. PMID: 24038889Free PMC Article

Recent clinical studies

Etiology

Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients.
Yurchenko AA, Rajabi F, Braz-Petta T, Fassihi H, Lehmann A, Nishigori C, Wang J, Padioleau I, Gunbin K, Panunzi L, Morice-Picard F, Laplante P, Robert C, Kannouche PL, Menck CFM, Sarasin A, Nikolaev SI
Nat Commun 2023 May 4;14(1):2561. doi: 10.1038/s41467-023-38311-0. PMID: 37142601Free PMC Article
TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS (MVA) syndrome.
Ochiai H, Miyamoto T, Kanai A, Hosoba K, Sakuma T, Kudo Y, Asami K, Ogawa A, Watanabe A, Kajii T, Yamamoto T, Matsuura S
Proc Natl Acad Sci U S A 2014 Jan 28;111(4):1461-6. Epub 2013 Dec 16 doi: 10.1073/pnas.1317008111. PMID: 24344301Free PMC Article

Therapy

Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients.
Yurchenko AA, Rajabi F, Braz-Petta T, Fassihi H, Lehmann A, Nishigori C, Wang J, Padioleau I, Gunbin K, Panunzi L, Morice-Picard F, Laplante P, Robert C, Kannouche PL, Menck CFM, Sarasin A, Nikolaev SI
Nat Commun 2023 May 4;14(1):2561. doi: 10.1038/s41467-023-38311-0. PMID: 37142601Free PMC Article

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