DNA Damage: Tables

Table 1: Genomic instability associated with diseases and pathologies

Disease Clinical Presentation Mutated DDR Genes and Their Corresponding Proteins
Ataxia-oculomotor apraxia 1 Cerebellar atrophy, ataxia, sensorimotor axonal neuropathy APTX (aprataxin)
Ataxia telangiectasia Neurodegeneration, immunodeficiency, premature aging, radiation sensitivity, cancer ATM (ataxia telangiectasia mutated)
Ataxia-telangiectasia-like disorder Cerebellar degeneration, radiation sensitivity MRE11A (double-strand break repair protein Mre11A), ATM
Baller-Gerold syndrome Premature fusion of the skull bones and malformations of facial, forearm, and hand bones RECQL4 (RecQ protein-like 4)
Bloom syndrome Immunodeficiency, premature ageing, cancer BLM (Bloom syndrome protein)
Cancer Uncontrolled cell proliferation, metastasis CHEK2 (serine/threonine-protein kinase Chk2 isoform), BRCA1 (breast cancer type 1 susceptibility protein), BRCA2 (breast cancer type 2 susceptibility protein), RAD51 (DNA repair protein RAD51), TP53 (cellular tumor antigen p53 isoform), MLH3 (DNA mismatch repair protein Mlh3), MLH1, MSH2, MSH6, MUTYH (A/G-specific adenine DNA glycosylase), PMS1, PMS2, ALKBH3 (alpha-ketoglutarate-dependent dioxygenase alkB), etc.
Cellular ageing Declining ability to respond to mitotic signals and increased homeostatic imbalances Several proteins involved in DNA repair
Cockayne‘s syndrome Dwarfism, mental retardation, UV light sensitivity CSA (Cockayne syndrome WD repeat protein CSA), CSB
Fanconi anemia Congenital abnormalities, bone-marrow failure, cancer FANCM (Fanconi anemia group M protein), FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL
LIG4 syndrome Immunodeficiency and developmental and growth delay LIG4 (DNA ligase 4)
Nijmegen breakage syndrome Microcephaly and mental retardation, immunodeficiency, radiation sensitivity, cancer NBN (nibrin)
Mitochondrial chronic progressive external ophthalmoplegia Weakness of the external eye muscles and exercise intolerance, cataracts, hearing loss, hypogonadism POLG1 (mitochondrial DNA polymerase gamma, catalytic subunit)
Rothmund-Thompson syndrome Immunodeficiency, premature ageing, cancer RECQL4
Seckel syndrome Growth retardation, microcephaly with mental retardation, ‘bird-headed’ facial appearance ATR (ATM and Rad3 related)
Severe combined immunodeficiency with microcephaly Microcephaly, growth retardation, sensitivity to ionizing radiation NHEJ1 (Non-homologous end joining factor 1)
Spinocerebellar ataxia Cerebellar ataxia, axonal neuropathy, muscular atrophy TDP1 (Tyrosyl-DNA phosphodiesterase 1)
Trichothiodystrophy Hair abnormality, mental, and growth retardation XPB (Xeroderma pigmentosum group B-complementing protein), XPD
Werner’s syndrome Immunodeficiency, cancer WRN (Werner syndrome ATP-dependent helicase)
Xeroderma pigmentosa UV light sensitivity, skin ageing, skin cancer XPA (Xeroderma pigmentosum group A-complementing protein), POLH (DNA polymerase eta), DDB1/2 (DNA damage binding protein 1 and 2); ERCC3 (excision-repair cross-complementing 2), ERCC3, ERCC4, ERCC5 encoding XPD, XPB, XPF, and XPG, respectively


Table was reproduced, with modifications, from Georgoulis et al. (2017) 109. License at https://creativecommons.org/licenses/by/4.0/