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

Calmels, Nadège; Greff, Géraldine; Obringer, Cathy; Kempf, Nadine; Gasnier, Claire; Tarabeux, Julien; Miguet, Marguerite; Baujat, Geneviève; Bessis, Didier; Bretones, Patricia; Cavau, Anne; Digeon, Béatrice; Doco-Fenzy, Martine; Doray, Bérénice; Feillet, François; Gardeazabal, Jesus; Gener, Blanca; Julia, Sophie; Llano-Rivas, Isabel; Mazur, Artur; Michot, Caroline; Renaldo-Robin, Florence; Rossi, Massimiliano; Sabouraud, Pascal; Keren, Boris; Depienne, Christel; Muller, Jean; Mandel, Jean-Louis; Laugel, Vincent

doi:10.1186/s13023-016-0408-0

Orphanet Journal of Rare Diseases

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.[Met867Thrfs14];[Gly1372Glufs22**]	+
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.[Phe309Leufs19];[?]**	+
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	-

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

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ISSN: 1750-1172

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