Skip to main content

Table 3 Clinical description, molecular and cellular results of the 40 NER-defective patients studied by NGS

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

Patient # Gender Clinical indication Intellectual disability/psychomotor delay Growth failure Micro-cephaly Photo-sensitivity Neuro-sensorial impairement Cancer RRS UDS NGS diagnosis Mutated gene Mutations (c.) Mutations (p.) Parentation segregation
1 F CS + + + + + - NA + ERCC6(CSB) c.[(?_-164)_(−15+44+1_136-1)];[2047C>T] p.[?];[Arg683*] + (only mother)
2 M CS + + + + + - NA + ERCC6(CSB) c.[2599-26A>G];[4115delG] p.[Met867Thrfs*14];[Gly1372Glufs*22] +
3 M CS + + + NA + - NA NA + ERCC6(CSB) c.[2060C>T];[3862C>T] p.[Ser687Leu];[Arg1288*] +
4 M CS + + NA + - - N + ERCC6(CSB) c.[543G>T];[543+4delA] p.[Lys181Asn];[?] +
5 F CS + + + + + - NA NA + ERCC8(CSA) c.[927delT];[1041+1G>T] p.[Phe309Leufs*19];[?] +
6 F CS + + + ++ + - N + ERCC8(CSA) c.[356C>T(;)618-1G>A] p.[Ser119Leu(;)?] NA
7 M CS + + + + - - NA + ERCC8(CSA) c.[611C>A];[1122+1delG] p.[Thr604Lys];[?] + (only mother)
8 M CS + - - + + - I N + ERCC8(CSA) c.[730C>T];[730C>T] p.[His244Tyr];[His244Tyr] +
9 M CS + + + + + - I NA + ERCC8(CSA) c.[793A>C];[793A>C] p.[Thr265Pro];[Thr265Pro] +
10 F XP - NA - + - + N N + POLH c.[764+1G>A(;)1445C>A] p.[?(;)Ser482*] NA
11 F XP - NA NA + - + N N + POLH c.[764+1G>A(;)764+1G>A] p.[?(;)?] NA
12 F XP - NA - + - + N N + POLH c.[764+1G>A(;)764+1G>A] p.[?(;)?] NA
13 M XP - NA NA + NA + N N + POLH c.[764+1G>A];[764+1G>A] p.[?];[?] +
14 M CS + - + ++ + - NA + ERCC2(XPD) c.[1847G>C];[2047C>T] p.[Arg616Pro];[Arg683Trp] + (only mother)
15 F UVSS - - - ++ - - NA + ERCC2(XPD) c.[2047C>T];[2047C>T] p.[Arg683Trp];[Arg683Trp] +
16 F CS + + + + - - + ERCC5(XPG) c.[2200-10C>G];[2200-10C>G] p.[?];[?] +
17 M UVSS - - - ++ + - + ERCC3(XPB) c.[296T>C(;)325C>T] p.[Phe99Ser(;)Arg109*] NA
18 M CS + + + - + - NA NA -     
19 F CS + + + NA + - N -     
20 F XP + + NA ++ + - NA NA -     
21 M CS + + + NA - - N N -     
22 F CS + + + - + - I N -     
23 M CS + + + NA + - I NA -     
24 F CS + + - - - - N N -     
25 M CS + + + - - - N NA -     
26 F CS + + + - - - N N -     
27 M CS - + + - + - NA NA -     
28 M COFS NA + + NA + - N N -     
29 M CS + + + + + - NA NA -     
30 F CS + + + + + - N -     
31 M CS + + + - + - NA NA -     
32 F CS + + + + - - N -     
33 M CS + + + - - - N N -     
34 F CS + + + - - - NA NA -     
35 F CS + + + - + - NA NA -     
36 F CS + + + - + - NA NA -     
37 M CS + + + - + - NA NA -     
38 F CS + + + NA + - NA NA -     
39 F COFS NA + + NA NA - NA NA -     
40 M COFS NA + + NA NA - N I -     
  1. Undescribed variations are in bold. Variations are described according to the latest nomenclature conventions described in HGVS. I: inconclusive results, N: normal; NA: not available; RRS: recovery of RNA synthesis; UDS: unscheduled DNA synthesis