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. Author manuscript; available in PMC: 2009 Jul 1.
Published in final edited form as: Mech Ageing Dev. 2008 Feb 3;129(7-8):492–497. doi: 10.1016/j.mad.2008.01.005

Table 1.

Major diseases of DNA repair, the repair pathways and pathology

DNA repair pathways1 Syndrome and common abbreviation2 Gene name3 Phenotype
GGR/NER Xeroderma pigmentosum (XP) XPE
XPC

  • -Photosensitivity

  • -Skin cancer
NER common pathway Xeroderma pigmentosum (XP) XPA
XPB
XPD
XPF
XPG

  • -Cerebellar degeneration

  • -Photosensitivity

  • -Skin cancer
NER common pathway Trichothiodystrophy (TTD) XPB
XPD
TFB5

  • -Photosensitivity

  • -Hair and immune deficiency

  • -Life-shortening (mouse)
Bypass polymerase Xeroderma pigmentosum variant (XPV) Pol eta

  • -Photosensitivity

  • -Skin cancer
TCR Cockayne syndrome (CS) CSA
CSB

  • -Retinal, cerebellar (purkinje), ganglial calcifications,

  • -Aging
TCR UV sensitive syndrome (UVs) CSB

  • -Mild photosensitivity
TCR Cerebro-oculo-facio-skeletal syndrome (COFS) ERCC1
CSB

  • -Severe neonatal lethal developmental disorder
BER Ataxia-oculomotor apraxia syndrome (AOA) APTX

  • -Cerebellar ataxia

  • -Oculomotor apraxia
Topoisomerase-1 induced breaks (TCR) Spinocerebellar ataxia with axonal neuropathy (SCAN1) TDP1

  • -Postmitotic neurons (cerebellar ataxia and axonal neuropathy)
NHEJ and V(D)J recombination Severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID) DCLRE1C

  • -Immunodeficiency

  • -Photosensitivity
NHEJ LIG4 syndrome (LIG4) LIG4

  • -Microcephaly

  • -Lymphoreticular disease

  • -Immunodeficiency
NHEJ Severe combined immunodeficiency with microcephaly (SCID) NHEJ1

  • -Microcephaly

  • -Immunodeficiency

  • -Growth retardation

  • -Photosensitivity
BER Werner syndrome (WRN) WRN

  • -Premature aging

  • -Premature arteriosclerosis

  • -Diabetes mellitus

  • -Scleroderma-like skin changes
DSB repair and signal transduction Ataxia telangiectasia (AT) ATM

  • -Cerebellar ataxia

  • -Oculomotor apraxia

  • -lymphocytic leukemia
DSB repair and signal transduction Ataxia-telangiectasia-like disorder (ATLD) MRE11

  • -Cerebellar ataxia

  • -Oculomotor apraxia
DSB repair and signal transduction Nijmegen breakage syndrome (NBS) NBS1

  • -Microcephaly,

  • -Growth retardation

  • -Immunodeficiency

  • -Cancer predisposition
ATR signaling pathway Seckel syndrome 1 (SCKL1) ATR
SCKL2
SCKL3

  • -Microcephaly

  • -Growth retardation

  • -Mental retardation
ATR signaling pathway Microcephaly primary autosomal recessive 1 (MCPH1) MCPH1
MCPH2
MCPH4

  • -Microcephaly
NHEJ and V(D)J recombination Inactivation of Ku70 or Ku80 in mouse models Ku70
Ku80

  • -Premature aging

  • -Cancer predisposition

  • -Lymphomas
1

Abbreviations not already defined in the text include: ATM, ataxia telangiectasia mutated; ATR, ataxia telangiectasia mutated and Rad3-related; NHEJ, nonhomologous end joining; V(D)J, regions of the immunoglobulin locus involved in rearrangements.

2

Abbreviations shown in parenthesis represent the common abbreviations for each disease. Ku70, Ku80 are two end binding proteins associated with DSB repair.

3

The initials represent the common designations for each gene(s) involved in the corresponding disease.