Атаксия телеангиэктазия (синдром Луи-Бар)

Атаксия-телеангиэктазия (синдром Луи-Бар) – нейродегенеративное заболевание, причиной развития которого является мутация в гене ATM. Характеризуется постепенным нарушением координации движений (атаксией), развитием специфических изменений на коже и склерах глаз (телеангиэктазий), повышенной восприимчивостью к инфекциям и повышенным риском развития онкологических заболеваний. Поражаются оба пола. Встречается у 1 из 40000-100000 человек во всем мире.

Узнать больше: https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia

Число исследованных генов: 1

Число исследованных мутаций: 181

Были исследованы мутации в следующих генах:

ATM

Мутации которые не были обнаружены:

Мутация Тип Частота SNP
ATM:c.192delA frameshift_variant rs878853490
ATM:c.7630-2A>C splice_acceptor_variant 0.000032 rs587779866
ATM:c.7630-2A>G splice_acceptor_variant rs587779866
ATM:c.8786+1G>C splice_donor_variant rs17174393
ATM:c.1463G>A nonsense 0.000032 rs879254093
ATM:c.7705_7706delGA frameshift_variant 0.000020 rs759965045
ATM:c.119_122delTTAA frameshift_variant rs876659116
ATM:c.5653dupA frameshift_variant rs587778077
ATM:c.170G>A nonsense rs587779818
ATM:c.8147T>C missense_variant 0.000040 rs587782652
ATM:c.4111delG frameshift_variant rs797045114
ATM:c.8264_8268delATAAG frameshift_variant 0.000010 rs730881294
ATM:c.8802delC frameshift_variant rs876660567
ATM:c.4776+2T>C splice_donor_variant rs587781927
ATM:c.331+5G>A intron_variant 0.000010 rs752135143
ATM:c.3214G>T nonsense rs1060501687
ATM:c.8185C>T nonsense 0.000010 rs587781967
ATM:c.1524delT frameshift_variant rs786204737
ATM:c.4143dupT frameshift_variant rs730881309
ATM:c.4396C>G nonsense 0.000010 rs730881369
ATM:c.9139C>T nonsense 0.000032 rs121434219
ATM:c.-30-1G>T splice_acceptor_variant rs869312754
ATM:c.381delA frameshift_variant rs587781831
ATM:c.15dupT frameshift_variant rs876660842
ATM:c.138_141delTTCA frameshift_variant rs786203370
ATM:c.8786+1G>A splice_donor_variant 0.000020 rs17174393
ATM:c.72+1G>A splice_donor_variant 0.000032 rs786204088
ATM:c.4373delG frameshift_variant rs587781653
ATM:c.4437-1G>C splice_acceptor_variant 0.000010 rs759520465
ATM:c.8814_8824delGAGAAACTCTC frameshift_variant 0.000020 rs758814126
ATM:c.3049C>T nonsense rs730881388
ATM:c.4052delT frameshift_variant rs786202350
ATM:c.1396C>T nonsense rs876660485
ATM:c.4804_4805delGT frameshift_variant 0.000032 rs864622290
ATM:c.7629+2T>C splice_donor_variant rs786203059
ATM:c.1607+1G>T splice_donor_variant 0.000010 rs772926890
ATM:c.5763-1050A>G 0.000065 rs774925473
ATM:c.3304G>T nonsense rs147557621
ATM:c.4370T>G nonsense rs373226793
ATM:c.1339C>T nonsense 0.000010 rs587779815
ATM:c.5644C>T nonsense rs786204433
ATM:c.332-1G>A splice_acceptor_variant 0.000010 rs747855862
ATM:c.3078-1G>A splice_acceptor_variant 0.000010 rs750663117
ATM:c.5497-1G>A splice_acceptor_variant rs876660245
ATM:c.1065+1G>T splice_donor_variant rs201089102
ATM:c.1110C>G nonsense rs376170600
ATM:c.3218dupT frameshift_variant rs876660741
ATM:c.8266A>T nonsense 0.000055 rs371638537
ATM:c.1369C>T nonsense 0.000065 rs749036865
ATM:c.3993+1G>T splice_donor_variant rs200196781
ATM:c.9079dupA frameshift_variant rs587780645
ATM:c.7456C>T nonsense rs587779865
ATM:c.2T>C missense_variant rs786203606
ATM:c.3085dupA frameshift_variant rs876658502
ATM:c.1402_1403delAA frameshift_variant 0.000050 rs587781347
ATM:c.5762+1G>T splice_donor_variant rs869312756
ATM:c.8036_8051del16 frameshift_variant 0.000032 rs587780640
ATM:c.8146G>T missense_variant rs730881385
ATM:c.6650_6657delTTAGTTTT frameshift_variant rs864622326
ATM:c.3G>A missense_variant 0.000010 rs781404312
ATM:c.8292_8293delTG frameshift_variant 0.000032 rs879254036
ATM:c.1931C>A nonsense rs768362387
ATM:c.478_482delTCTCA frameshift_variant rs587780624
ATM:c.3381_3384delTCAG frameshift_variant rs587781971
ATM:c.4776+2T>A splice_donor_variant rs587781927
ATM:c.6415_6416delGA frameshift_variant rs863225466
ATM:c.6572+1G>A splice_donor_variant rs587779856
ATM:c.1355delC frameshift_variant rs587781776
ATM:c.3284+1G>A splice_donor_variant rs864622129
ATM:c.7913G>A nonsense 0.000055 rs377349459
ATM:c.7998dupT frameshift_variant rs587779869
ATM:c.5460dupA frameshift_variant rs1057516760
ATM:c.1027_1030delGAAA frameshift_variant 0.000030 rs587780612
ATM:c.2880delC frameshift_variant rs730881300
ATM:c.1158delG frameshift_variant rs587782085
ATM:c.8977C>T nonsense 0.000020 rs770641163
ATM:c.1179_1180delGG frameshift_variant rs876659450
ATM:c.2921+1G>C splice_donor_variant rs587781558
ATM:c.8584+2T>C splice_donor_variant rs730881326
ATM:c.7517_7520delGAGA frameshift_variant rs587781905
ATM:c.43delC frameshift_variant 0.000010 rs771887195
ATM:c.7629_7629+4delTGTAA intron_variant rs876660041
ATM:c.4106C>A nonsense rs1057520640
ATM:c.7886_7890delTATTA frameshift_variant rs587776548
ATM:c.2413C>T nonsense 0.000050 rs780619951
ATM:c.802C>T nonsense 0.000105 rs557012154
ATM:c.1898+2T>G splice_donor_variant rs587782124
ATM:c.5798G>A nonsense rs876658740
ATM:c.3320T>A nonsense rs1060501711
ATM:c.4735C>T nonsense rs869312755
ATM:c.496+5G>A intron_variant rs796051858
ATM:c.7838_7839dupGA frameshift_variant rs730881293
ATM:c.103C>T nonsense rs55861249
ATM:c.3154-2A>G splice_acceptor_variant rs730881357
ATM:c.2921+1G>T splice_donor_variant rs587781558
ATM:c.8545C>T nonsense rs587778080
ATM:c.6228delT frameshift_variant rs786203008
ATM:c.2502dupA frameshift_variant rs587779822
ATM:c.829G>T nonsense rs876660933
ATM:c.7951C>T nonsense rs587781994
ATM:c.901+1G>A splice_donor_variant 0.000030 rs748840480
ATM:c.2849T>G missense_variant rs786203054
ATM:c.8432delA frameshift_variant rs587782558
ATM:c.2789T>G nonsense rs786203309
ATM:c.717_720delCCTC frameshift_variant rs587782660
ATM:c.3626_3627delTT frameshift_variant rs786203817
ATM:c.7271T>G missense_variant 0.000065 rs28904921
ATM:c.3993+1G>A splice_donor_variant 0.000030 rs200196781
ATM:c.7327C>T nonsense rs121434220
ATM:c.6404_6405insTT frameshift_variant 0.000032 rs864622649
ATM:c.8711A>G missense_variant rs786202826
ATM:c.5396delG frameshift_variant rs587782812
ATM:c.6095G>A missense_variant 0.000070 rs139770721
ATM:c.8010+1delG splice_donor_variant rs876659350
ATM:c.2921+1G>A splice_donor_variant 0.000030 rs587781558
ATM:c.8988-1G>A splice_acceptor_variant rs730881386
ATM:c.3712_3716delTTATT frameshift_variant rs786201675
ATM:c.8418+1G>A splice_donor_variant 0.000010 rs766533795
ATM:c.3372C>G nonsense rs587779833
ATM:c.2098C>T nonsense rs786202743
ATM:c.8876_8879delACTG frameshift_variant rs786204726
ATM:c.4852C>T nonsense 0.000010 rs762083530
ATM:c.748C>T nonsense 0.000010 rs772821016
ATM:c.3931C>T nonsense 0.000105 rs200976093
ATM:c.7240C>T nonsense rs863224462
ATM:c.7926A>C missense_variant rs863224440
ATM:c.6049dupA frameshift_variant rs797045030
ATM:c.2754delT frameshift_variant rs786202608
ATM:c.7096G>T nonsense rs587781672
ATM:c.1139_1142dupACAG frameshift_variant rs886041340
ATM:c.9022C>T missense_variant 0.000030 rs587782292
ATM:c.742C>T nonsense 0.000010 rs730881336
ATM:c.790delT frameshift_variant rs1060499601|rs587781978
ATM:c.5188C>T nonsense 0.000010 rs764389018
ATM:c.824delT frameshift_variant rs1060499600|rs864622389
ATM:c.3994-2A>G splice_acceptor_variant 0.000030 rs587782276
ATM:c.8585-2A>C splice_acceptor_variant rs1060501700
ATM:c.4019_4029delTACCAGAGATT frameshift_variant 0.000032 rs1057517140
ATM:c.6679C>T missense_variant rs564652222
ATM:c.2023C>T nonsense 0.000030 rs777849257
ATM:c.549_550delTA frameshift_variant rs730881297
ATM:c.3576G>A synonymous_variant 0.000020 rs587776551
ATM:c.3935dupG frameshift_variant rs876659672
ATM:c.6100C>T nonsense 0.000032 rs532480170
ATM:c.9023G>A missense_variant 0.000010 rs587781894
ATM:c.5290delC frameshift_variant 0.000010 rs587779846
ATM:c.7788G>A synonymous_variant 0.000010 rs587780639
ATM:c.5320-5_5320-2delTCTA splice_acceptor_variant rs730881310
ATM:c.3747-1G>C splice_acceptor_variant rs730881364
ATM:c.9021dupA frameshift_variant rs876660235
ATM:c.8305_8317delTGGTGCACAGGAA frameshift_variant rs786202318
ATM:c.9019G>T nonsense rs876660382
ATM:c.5932G>T nonsense 0.000070 rs587779852
ATM:c.2377_2378dupAA frameshift_variant rs1057516980
ATM:c.2426C>T nonsense rs730881348
ATM:c.2720_2723delGTGT frameshift_variant rs786202695
ATM:c.8418+5_8418+8delGTGA intron_variant 0.000032 rs730881295|rs1060499575
ATM:c.8293G>A missense_variant 0.000010 rs748634900
ATM:c.5890A>G nonsense rs201963507
ATM:c.3980T>G nonsense rs587782192
ATM:c.6976-2A>C splice_acceptor_variant rs587782403
ATM:c.8494C>T missense_variant 0.000010 rs587779872
ATM:c.7000_7003delTACA frameshift_variant rs786203421
ATM:c.3894dupT frameshift_variant rs587781823
ATM:c.6397C>T nonsense rs876658163
ATM:c.7010_7011delGT frameshift_variant rs864622416
ATM:c.6997dupA frameshift_variant 0.000032 rs587781299
ATM:c.6047A>G missense_variant rs587781302
ATM:c.2251-1G>C splice_acceptor_variant rs876659710
ATM:c.3850delA frameshift_variant rs876660865
ATM:c.8395_8404delTTTCAGTGCC frameshift_variant rs786202800
ATM:c.2638+2T>C splice_donor_variant rs587779826
ATM:c.3836G>A nonsense rs587779836
ATM:c.3802delG frameshift_variant 0.000032 rs587779834
ATM:c.5910delA frameshift_variant rs587782198
ATM:c.5908C>T nonsense rs587781722
ATM:c.3663G>A nonsense 0.000032 rs864622490
ATM:c.3510dupA frameshift_variant rs876658899
ATM:c.2251-10T>G intron_variant 0.000010 rs730881346
ATM:c.8397delT frameshift_variant rs587781837
ATM:c.8307G>A nonsense 0.000010 rs778269655

Редкие мутации, которые могут также приводить к заболеванию, но не были исследованы в ходе данного теста:

Мутация Тип Частота SNP
ATM:c.7699_7702delAACA frameshift_variant rs1060501547
ATM:c.4246C>T nonsense rs1057516311
ATM:c.1741_1742delTT frameshift_variant rs1057516721
ATM:c.1655delC frameshift_variant rs1057516876
ATM:c.4695delT frameshift_variant rs1057517452
ATM:c.4632_4635delCTTA frameshift_variant rs1064794236
ATM:c.3994-1G>T splice_acceptor_variant rs1057516238
ATM:c.7767delA frameshift_variant rs1057517025
ATM:c.3252_3259delAGTTCGCA frameshift_variant rs876658402
ATM:c.4198A>T nonsense rs587781950
ATM:c.1803-2A>G splice_acceptor_variant rs1057517358
ATM:c.1053dupT frameshift_variant rs587781984
ATM:c.1564_1565delGA frameshift_variant rs587779817
ATM:c.5763-2A>T splice_acceptor_variant rs876659489
ATM:c.4732C>T nonsense 0.000010 rs746499337
ATM:c.378delT frameshift_variant rs587781449
ATM:c.2999dupA frameshift_variant rs1057516250
ATM:c.3245_3247delATCinsTGAT frameshift_variant rs587776549
ATM:c.368delA frameshift_variant rs730881296
ATM:c.5515C>T nonsense rs786204751
ATM:c.8671+2T>C splice_donor_variant rs1057516229
ATM:c.5791delGinsCCT frameshift_variant rs587779851
ATM:c.6658C>T nonsense rs1060501536
ATM:c.6482_6483dupGC frameshift_variant rs1057516905
ATM:c.1290_1291delTG frameshift_variant rs587781598
ATM:c.7880delA frameshift_variant rs1057516599
ATM:c.8851-1G>T splice_acceptor_variant rs1057516537
ATM:c.5005+1G>T splice_donor_variant rs1057517427
ATM:c.3231dupT frameshift_variant rs1057517097
ATM:c.5631_5635delCTCGCinsA frameshift_variant rs876660495
ATM:c.5320-4_5323delCTAGTTTT rs1057516540
ATM:c.5351delA frameshift_variant rs1057517101
ATM:c.2839-3_2839delinsGATACTA intron_variant rs786202148
ATM:c.4098_4099delTG frameshift_variant rs876658248
ATM:c.1856delA frameshift_variant rs1057517300
ATM:c.3990delA frameshift_variant rs1057517100
ATM:c.6348-1G>A splice_acceptor_variant rs1057517302
ATM:c.5549delT frameshift_variant rs876658287
ATM:c.6095+2T>C splice_donor_variant rs1057516525
ATM:c.8098A>T nonsense rs758588019
ATM:c.756_757delTG frameshift_variant rs876659003
ATM:c.5554C>A nonsense 0.000010 rs754562056
ATM:c.5623C>T nonsense 0.000060 rs376603775
ATM:c.588delA frameshift_variant rs1057516683
ATM:c.8880G>A nonsense rs1060501650
ATM:c.5130_5131delGAinsAC nonsense rs1057516358
ATM:c.3603delT frameshift_variant rs1057517129
ATM:c.3068delG frameshift_variant rs1057516590
ATM:c.5712dupA frameshift_variant rs587781730
ATM:c.2877C>G nonsense rs1057517253
ATM:c.6347+1G>A splice_donor_variant 0.000035 rs1057517120
ATM:c.8833_8834delCT frameshift_variant rs786203030
ATM:c.3351_3354delAACA frameshift_variant rs1057516446
ATM:c.6976-10_6989del rs587779859
ATM:c.3577-1G>C splice_acceptor_variant rs1057517226
ATM:c.2377-2A>G splice_acceptor_variant rs1057516553
ATM:c.8565_8566delTGinsAA missense_variant rs587781353
ATM:c.8418+2T>C splice_donor_variant rs1060501713
ATM:c.7927+5delG intron_variant rs786204437
ATM:c.902-1G>T splice_acceptor_variant rs1064793518
ATM:c.7089+2T>G splice_donor_variant rs1057516235
ATM:c.3541A>T nonsense rs1057516981
ATM:c.7875_7876delTGinsGC missense_variant rs267606668
ATM:c.9064dupG frameshift_variant rs1057516282
ATM:c.6916_6917delAG frameshift_variant rs878853535
ATM:c.3754_3756delTATinsCA frameshift_variant rs786201886
ATM:c.5979_5983delTAAAG frameshift_variant rs876660134
ATM:c.6040G>C nonsense rs375783941
ATM:c.877A>T nonsense rs1057516442
ATM:c.3747-2A>G splice_acceptor_variant rs1057517213
ATM:c.7166C>G nonsense rs1018140779|rs1057516833
ATM:c.3315dupC frameshift_variant rs1057516301
ATM:c.640delT frameshift_variant rs786204543
ATM:c.8325delC frameshift_variant rs886039623
ATM:c.2606_2607delCA frameshift_variant rs1057516944
ATM:c.7181C>T missense_variant rs587779861
ATM:c.2542G>A nonsense rs879254046
ATM:c.5319+1G>T splice_donor_variant rs876660175
ATM:c.2284_2285delCT frameshift_variant rs587781658
ATM:c.2165dupT frameshift_variant rs1057516393
ATM:c.3880dupA frameshift_variant rs1057516541
ATM:c.2135C>G nonsense rs1057516620
ATM:c.2125delA frameshift_variant rs1057517248
ATM:c.2113delT frameshift_variant rs863224822