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. 2008 Aug 20;17(2):151–158. doi: 10.1038/ejhg.2008.154

Table 1. Reported patients with RECQL4 mutations.

Patient IDs Syndrome Exon/ intron Mutation 1 Effect of mutation 1 on protein Exon/ intron Mutation 2 Effect of mutation 2 on protein Age at onset of osteosarcoma (years) Age at onset of lymphoma (years) References
A. Patients with malignancies
II-3 RTS ex10 c.1650del7 p.Ala551TyrfsX5 ex14 c.2269C>T p.Gln757X 31 — 1, (13)
& II-6               15 —  
II-1 RTS int7 c.1391−1G>A Missplicing ex9 c.1573delT p.Cys525AlafsX33 21 — 5
& (II-2)               7 —  
FCP-102 RTS int8 c.1483+25del11 Missplicing int8 c.1483+25del11 Missplicing 11 — 7, 9
& -102 sibling               12 —  
FCP-114 RTS ex15 c.2547−2548delGT p.Phe850ProfsX33 — a a 13 — 9
FCP-125 RTS ex14 c.2269C>T p.Gln757X ex14 c.2269C>T p.Gln757X 9 — 9, (14)
FCP-129 RTS ex9 c.1573delT p.Cys525AlafsX33 ex14 c.2269C>T p.Gln757X 4 — 9, (14)
FCP-136 RTS int11 c.1878+5G>A Missplicing ex15 c.2476C>T p.Arg826X 7 — 9
FCP-153 RTS int7 c.1391−1G>A Missplicing ex9 c.1573delT p.Cys525AlafsX33 20 — 9
& -153 sibling               9 —  
FCP-191 RTS ex15 c.2492−2493delAT p.His831ArgfsX52 — — — 19 — 9
FCP-203 RTS ex18 c.3072_3073delAG p.Val1026AlafsX6 ex19 c.3276delG p.Asp1093MetfsX57 3 — 9
FCP-210 RTS ex11 c.1718delA p.Gln573GlyX9 int11 c.1878+32del24 Missplicing 8 — 9
IV-4 RTS int8 c.1483+27del11 Missplicing int8 c.1483+27del11 Missplicing 14 — 4, (15, 16)
& IV-5               15 —  
AS517 RTS ex9 c.1568delG p.Ser523ThrfsX35 ex14 c.2269C>T p.Gln757X 12 — 12
Patient 8 RTS ex12 c.1913T>C p.Leu638Pro ex14 c.2419ins5 Arg807ProfsX38 — 2  
r504 RAPA int7 c.1390+2delT p.Ala420_Ala463del int7 c.1390+2delT p.Ala420_Ala463del 15 — 2
Patient 7 RAPA int7 c.1390+2delT p.Ala420_Ala463del int7 c.1390+2delT p.Ala420_Ala463del 10 —  
r903 RAPA int7 c.1390+2delT p.Ala420_Ala463del int7 c.1390+2delT p.Ala420_Ala463del — 21 2
& r904               — 25  
r704 RAPA int7 c.1390+2delT p.Ala420_Ala463del ex5 c.806G>A p.Trp269X — 24 2, (17)
Patient 6 RAPA int7 c.1390+2delT p.Ala420_Ala463del ex21 c.3599_3600delCG p.Thr1200ArgfsX26 — 33 (17)
                     
B. Patients without malignancies
AG05013 RTS int12 c.2059−1G>T Missplicing ex15 c.2492−2493delAT p.His831ArgfsX52 — — 1
RTS1 RTS ex9 c.1573delT p.Cys525AlafsX33 int12 c.2059−1G>T Missplicing — — 6
FCP-144 & -145 RTS int14 c.2464−1G>C Missplicing int14 c.2464−1G>C Missplicing — — 9
FCP-157 RTS ex9 c.1573delT p.Cys525AlafsX33 ex14 c.2269C>T p.Gln757X — — 9
FCP-167 RTS ex9 c.1573delT p.Cys525AlafsX33 ex19 c.3270delG p.Glu1090AspfsX60 — — 9
FCP-168 RTS ex15 c.2552delC p.Pro851GlnfsX97 — — — — — 9
FCP-175 RTS ex9 c.1573delT p.Cys525AlafsX33 ex21 c.3523C>T p.Gln1175X — — 9
FCP-185 RTS ex14 c.2428C>T p.Gln810X ex14 c.2428C>T p.Gln810X — — 9
FCP-195 RTS ex5 c.1048_1049delAG p.Arg350GlyfsX21 ex14 c.2269C>T p.Gln757X — — 9
FCP-207 RTS ex10 c.1704G>A Missplicing — — — — — 9
FCP-219 RTS ex14 c.2207insC p.Lys738GlnfsX71 — — — — — 9
FCP-240 RTS ex15 c.2476C>T p.Arg826X ex15 c.2476C>T p.Arg826X — — 9
FCP-242 RTS ex14 c.2269C>T p.Gln757X ex18 c.3072_3073delAG p.Val1026AlafsX6 — — 9
Patient 1 RTS ex9 c.1573delT p.Cys525AlafsX33 ex18 c.3061C>T p.Arg1021Trp — — 11
Patient 1 RTS int2 c.118+27del25 Missplicing int16 c.2886−2A>T Missplicing — — 8
Patient 1 RTS int10 c.1705−1G>A Missplicing ex12 c.1913T>C p.Leu638Pro — — 10
AS518 RTS ex9 c.1568delG p.Ser523ThrfsX35 ex14 c.2269C>T p.Gln757X — — 12
AS287 RTS ex9 c.1568delG p.Ser523ThrfsX35 ex16 c.2780T>G p.Leu927Arg — — 12
Patient 9 RTS ex9 c.1573delT p.Cys525AlafsX33 int1 c.84+6del16 Missplicing — — (18, 19)
Patient 10 RTS ex5 c.1048_1049delAG p.Arg350GlyfsX21 ex14 c.2269C>T p.Gln757X — — (19)
Patient 11 RTS ex9 c.1573delT p.Cys525AlafsX33 ex14 c.2461C>T p.Gln821X — —  
Patient 12 RTS int7 c.1391−1G>A Missplicing int14 c.2464−1G>C Missplicing — —  
Patient 13 RTS ex5 c.1048_1049delAG p.Arg350GlyfsX21 ex14 c.2398C>T p.Gln800X — —  
F1, patients 1–4 BGS ex9 c.1573delT p.Cys525AlafsX33 ex18 c.3061C>T p.Arg1021Trp — — 3, (20)
F2, patient 1 BGS int17 c.3056−2A>C Missplicing int17 c.3056−2A>C Missplicing — — 3, (21)
Patient 14 BGS ex14 c.2335del22 p.Asp779CysfsX57 ex14 c.2335del22 p.Asp779CysfsX57 — —  
Patient 15 & 16 BGS ex5 c.496C>T p.Gln166X ex18 c.3151A>G p.Ile1051Val — —  
r104 RAPA int7 c.1390+2delT p.Ala420_Ala463del int7 c.1390+2delT p.Ala420_Ala463del — — 2
r203 RAPA int7 c.1390+2delT p.Ala420_Ala463del int7 c.1390+2delT p.Ala420_Ala463del — — 2
r605 & r606 RAPA int7 c.1390+2delT p.Ala420_Ala463del int7 c.1390+2delT p.Ala420_Ala463del — — 2
r805 RAPA int7 c.1390+2delT p.Ala420_Ala463del int7 c.1390+2delT p.Ala420_Ala463del — — 2
r1003 RAPA int7 c.1390+2delT p.Ala420_Ala463del int7 c.1390+2delT p.Ala420_Ala463del — — 2
r303 & r304 RAPA int7 c.1390+2delT p.Ala420_Ala463del ex19 c.3271C>T p.Gln1091X — — 2, (17)
r405 RAPA int7 c.1390+2delT p.Ala420_Ala463del ex18 c.3214A>T p.Arg1072X — — 2
Patient 1 RAPA ex9 c.1573delT p.Cys525AlafsX33 ex13 c.2091T>G p.Phe697Leu — —  
Patient 2 RAPA ex12 c.1910T>C p.Phe637Ser ex15 c.2476C>T p.Arg826X — —  
Patient 3 RAPA ex12 c.1885del4 p.Arg629SerfsX60 ex14 c.2269C>T p.Gln757X — —  
Patient 4 RAPA int12 c.2059−1G>A Missplicing ex18 c.3072delA p.Val1026CysfsX18 — —  
Patient 5 RAPA ex8 c.1397C>T p.Pro466Leu ex12 c.1887del4 p.Glu630AlafsX59 — —  

Only patients having at least one deleterious mutation are shown. IDs of the patient studied in this project have been marked in bold as well as novel mutations. Sibling pairs have been marked with &. AS517 and AS518 are also siblings. References without parentheses are the ones in which mutations have been indicated and references in parentheses give additional information about the patients such as clinical descriptions. Patient r704 is patient 2, r303 and r304 are patients 3 and 4 and r203 is patient 5 in Kääriäinen et al, 1989.17 Patient 6 in this study is patient 1 in Kääriäinen et al, 198917 publication. Patients FCP-129 and FCP-125 in Wang et al, 20039 are very likely patients 1 and 2 (respectively) in Pujol et al, 200014 report.

a

This patient has three amino acid substitutions (p.Arg522Cys, p.Val799Met, p.Pro1170Leu), but none of them was proven to be the pathogenic change. Both p.Arg522Cys and p.Val799Met are found in the SNP database as rs35407712 and rs34293591, respectively. The third change is not found in the SNP database.