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Table 3 Mutation details

From: Comprehensive analysis on phenotype and genetic basis of Chinese Fanconi anemia patients: dismal outcomes call for nationwide studies

Case No. Gene Mutation 1 (maternal) Mutation 2 (paternal)
Genomic location cDNA/Protein Ref./Com. Genomic location cDNA/Protein Ref./Com.
1 FANCA chr16:89833593 c.2557C > T/p.R853X [20] chr16:89877396 c.367C > T/p.Q123X NA
2 FANCA chr16:89815145–89,815,146 c.3270_3271delCT/p.C1090RfsX25 Novel chr16:89868906–89,875,410 c.792 + 761_c.523-635del Novel
3 FANCA chr16:89877396 c.367C > T/p.Q123X NA chr16:89818822 c.2982-192A > G [21]
4a FANCA chr16:89842183 c.1867C > T/p.Q623X Novel chr16:89842183 c.1867C > T/p.Q623X Novel
5 FANCA chr16:89804935–89,806,139 c.3935-178_4368 + 74del Novel chr16:89819567–89,839,134 c.c.2014 + 545_2982-937del Novel
6 FANCA chr16:89811185–89,815,741 c.3239 + 397_3626 + 202del Novel chr16:89858887 c.1074_1075delGT/p.Y359PfsX49 NA
7 FANCA chr16:89826812–89,919,023 FANCA c.2852 + 1545_SPIRE2 c.646-1671del Novel chr16:89825071 c.2894_2895delCT/p.P965RfsX9 Novel
8 FANCA chr16:89780001–89,822,000 VPS9D1 c.432-877_FANCA c.2981 + 2985del [16] chr16: 89808940–89,809,954 c.3627-607_3765 + 268del [16]
9 FANCA chr16:89823177–89,825,446 c.2853-333_2981 + 1808del Novel chr16:89809270 c.3703C > T/p.Q1235X Novel
10 FANCA chr16:89818619 c.2990_2993delGTTA/p.S997MfsX28 NA chr16:89862229 c.987_990delTCAC/p.H330AfsX4 [22, 23]
11 FANCA chr16:89816286 c.3091C > T/p.Q1031X NA chr16:89792569–89,821,767 ZNF276 c.1007-1118_FANCA c.2982-3137del Novel
12 FANCA chr16:89806417 c.3918dupT/p.Q1307SfsX6 [24] chr16:89831438 c.2638C > G/p.R880G NA
13 FANCA chr16:89858941 c.1021C > T/p.Q341X Novel chr16:89811412 c.3581C > T/p.P1194L [24]
14 FANCB chrX:14868651 c.1472 T > A/p.V491E Novel
15 FANCB chrX:14877390 c.1018C > A/p.Q340K Novel
16a FANCC chr9:97912346 c.545C > A/p.S182Y Novel chr9:97912346 c.545C > A/p.S182Y Novel
17 FANCD2 chr3:10084828 c.983G > A/p.R328Q NA chr3:10114634 c.2574 T > G/p.I858M Novel
18 FANCD2 chr3:10132005 c.3713 T > A/p.M1238K NA chr3:10089599 c.1279-2A > T Novel
19 FANCE NA chr6:35426215 c.1111C > T/p.R371W [21, 22, 25]
20 FANCE chr6:35423547 c.272C > T/p.P91L Novel chr6:35427467–35,427,470 c.1246_1249delCAAA/p.T417SfsX7 NA
21a ERCC4 chr16:14015937 c.257G > A/p.R86H NA chr16:14015937 c.257G > A/p.R86H NA
  1. NA not available
  2. a Case 4, Case 16, and Case 21 carry homozygous variants