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Table 1 Clinical symptoms of NER-related disorders and more frequently involved genes

From: Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

 

Cockayne syndrome

COFS syndrome

Trichothiodystrophy

Xeroderma pigmentosum

UV-sensitive syndrome

Growth failure

++

++

+

-

-

Microcephaly

++

++

+/−

+/−

-

Intellectual disability

++

++

+/−

+/−

-

Retinal degeneration

+

+/−

-

-

-

Cataracts

+

+

+

-

-

Deafness

+

+/−

+/−

-

-

Photosensitivity

+

+/−

+/−

++

++

Brittle hair

-

-

++

-

-

Cancer

-

-

-

++

-

Known involved genes

ERCC6(CSB)

ERCC6(CSB)

ERCC2(XPD)

XPC

ERCC6(CSB)

ERCC8(CSA)

ERCC2(XPD)

ERCC3(XPB)

ERCC2(XPD)

ERCC8(CSA)

 

ERCC5(XPG)

TTD-A

XPA

UVSSA(KIAA1530)

 

ERCC1

TTDN1

POLH

 
   

ERCC5(XPG)

 
   

DDB2(XPE)

 
   

ERCC3(XPB)

 
   

ERCC1

 
   

ERCC4(XPF)

 
  1. COFS: cerebro-oculo-facio-skeletal syndrome