Муковисцидоз (кистозный фиброз)

Муковисцидоз (кистозный фиброз) – наследственное мультисистемное заболевание, при котором нарушается секреторная деятельность экзокринных желез организма (слюнные, потовые железы, железы бронхолегочной системы, поджелудочная железа, печень, железы кишечника, половые железы). Причиной развития заболевания является мутация в гене CFTR. Характеризуется образованием пота с высоким содержанием соли и слизи с аномальной вязкостью. Основные симптомы – тяжелые нарушения функции органов дыхания и желудочно-кишечного тракта. Прогноз неблагоприятный. Частота встречаемости приблизительно 1 случай на 2500-3500 новорожденных. Муковисцидозом страдают лица обоих полов.

Узнать больше: https://ghr.nlm.nih.gov/condition/cystic-fibrosis

Число исследованных генов: 1

Число исследованных мутаций: 237

Были исследованы мутации в следующих генах:

Мутации которые не были обнаружены:

Мутация Тип Частота SNP
CFTR:c.2290C>T nonsense 0.000010 rs121908810
CFTR:c.2353C>T nonsense 0.000105 rs374946172
CFTR:c.2215delG frameshift_variant 0.000010 rs397508353
CFTR:c.2195T>G nonsense 0.000010 rs397508350
CFTR:c.1986_1989delAACT frameshift_variant rs397508325
CFTR:c.2175dup frameshift_variant 0.000097 rs121908787
CFTR:c.850dupA frameshift_variant rs786204693
CFTR:c.828C>A nonsense rs397508799
CFTR:c.1650delA frameshift_variant rs397508251
CFTR:c.1647T>G missense_variant 0.000100 rs121909005
CFTR:c.1648G>A nonsense rs397508247
CFTR:c.1766+1G>A splice_donor_variant 0.000065 rs121908748
CFTR:c.579+3A>G intron_variant rs397508761
CFTR:c.2053C>T nonsense rs397508336
CFTR:c.580-1G>T splice_acceptor_variant 0.000010 rs121908793
CFTR:c.613C>T missense_variant rs121908803
CFTR:c.1646G>A missense_variant 0.000170 rs121908755
CFTR:c.617T>G missense_variant 0.000210 rs121908752
CFTR:c.595C>T missense_variant rs121908802
CFTR:c.3764C>A nonsense 0.000100 rs76649725
CFTR:c.3773dupT frameshift_variant rs121908789
CFTR:c.3846G>A nonsense 0.000440 rs77010898
CFTR:c.1766+1G>T splice_donor_variant rs121908748
CFTR:c.2128A>T nonsense rs75115087
CFTR:c.3883_3886delATTT frameshift_variant rs387906373
CFTR:c.3899dupT frameshift_variant rs797045158
CFTR:c.3908delA frameshift_variant rs397508637
CFTR:c.2017G>T nonsense 0.000010 rs397508331
CFTR:c.2036G>A nonsense rs397508333
CFTR:c.2052dupA frameshift_variant rs1131692276|rs121908786
CFTR:c.2052delA frameshift_variant 0.000066 rs121908746
CFTR:c.3873+1G>A splice_donor_variant 0.000100 rs143570767
CFTR:c.4086dupT frameshift_variant rs397508669
CFTR:c.4111G>T nonsense rs397508675
CFTR:c.4144C>T nonsense rs397508684
CFTR:c.4147dupA frameshift_variant rs397508685
CFTR:c.4196_4197delTC frameshift_variant rs397508693
CFTR:c.2374C>G nonsense rs145449046
CFTR:c.2424_2425insAT frameshift_variant rs387906359
CFTR:c.2429delG frameshift_variant rs1057516236
CFTR:c.2453delT frameshift_variant rs397515498
CFTR:c.2125C>T nonsense 0.000020 rs121908760
CFTR:c.579+1G>T splice_donor_variant 0.000115 rs77188391
CFTR:c.2490+1G>A splice_donor_variant 0.000110 rs141158996
CFTR:c.579+5G>A intron_variant rs78440224
CFTR:c.2491G>T nonsense 0.000030 rs397508387
CFTR:c.2537G>A nonsense rs397508393
CFTR:c.2538G>A nonsense rs267606722
CFTR:c.2547C>A nonsense rs397508394
CFTR:c.1364C>A missense_variant 0.000100 rs74551128
CFTR:c.1766+1G>C splice_donor_variant rs121908748
CFTR:c.680T>G missense_variant 0.000010 rs397508782
CFTR:c.695T>A missense_variant 0.000010 rs397508783
CFTR:c.743+1G>C splice_donor_variant rs397508791
CFTR:c.803delA frameshift_variant rs121908772
CFTR:c.2737_2738insG frameshift_variant rs121908788
CFTR:c.2739T>A nonsense 0.000105 rs149790377
CFTR:c.2763_2764dup frameshift_variant rs397508431
CFTR:c.3909C>G missense_variant 0.000183 rs80034486
CFTR:c.3929G>A nonsense rs397508645
CFTR:c.3937C>T nonsense rs121909026
CFTR:c.2875delG frameshift_variant 0.000010 rs397508447
CFTR:c.4046G>A missense_variant rs193922525
CFTR:c.1585-1G>A splice_acceptor_variant 0.000463 rs76713772
CFTR:c.1624G>T nonsense 0.000835 rs113993959
CFTR:c.1645A>C missense_variant 0.000010 rs121908757
CFTR:c.3536_3539delCCAA frameshift_variant rs121908782
CFTR:c.3587C>G nonsense 0.000020 rs121908763
CFTR:c.3605delA frameshift_variant rs397508587
CFTR:c.1651G>A missense_variant rs121909013
CFTR:c.1652G>A missense_variant 0.000770 rs75527207
CFTR:c.1654C>T nonsense rs76554633
CFTR:c.1657C>T nonsense 0.000243 rs74597325
CFTR:c.2464G>A nonsense rs397508378
CFTR:c.1209+1G>T splice_donor_variant rs397508176
CFTR:c.1240C>T nonsense rs397508183
CFTR:c.1365_1366delGG frameshift_variant rs797045161
CFTR:c.3752G>A missense_variant 0.000010 rs74503330
CFTR:c.3761T>G nonsense rs397508604
CFTR:c.3763T>C missense_variant rs121909041
CFTR:c.165-3C>T intron_variant 0.000055 rs200337193
CFTR:c.165-1G>A splice_acceptor_variant rs397508249
CFTR:c.166G>A missense_variant rs397508256
CFTR:c.170G>A nonsense rs397508279
CFTR:c.171G>A nonsense rs121909025
CFTR:c.175dupA frameshift_variant rs397508294
CFTR:c.178G>T nonsense 0.000065 rs77284892
CFTR:c.200C>T missense_variant 0.000065 rs368505753
CFTR:c.223C>T nonsense 0.000030 rs121908749
CFTR:c.254G>A missense_variant 0.000135 rs75961395
CFTR:c.262_263delTT frameshift_variant 0.000485 rs121908769
CFTR:c.263T>A nonsense rs397508412
CFTR:c.273+1G>A splice_donor_variant 0.000010 rs121908791
CFTR:c.273+3A>C intron_variant rs74467662
CFTR:c.274-1G>A splice_acceptor_variant 0.000010 rs121908792
CFTR:c.274G>A missense_variant rs121908751
CFTR:c.274G>A nonsense 0.000010 rs121908751
CFTR:c.310delA frameshift_variant rs397508499
CFTR:c.313delA frameshift_variant rs121908801
CFTR:c.328G>C missense_variant 0.000030 rs113993958
CFTR:c.349C>T missense_variant 0.000220 rs77834169
CFTR:c.350G>A missense_variant 0.001520 rs78655421
CFTR:c.366T>A nonsense rs79660178
CFTR:c.409delC frameshift_variant rs397508672
CFTR:c.442delA frameshift_variant rs121908770
CFTR:c.489+1G>T splice_donor_variant 0.000130 rs78756941
CFTR:c.531delT frameshift_variant rs121908771
CFTR:c.532G>A missense_variant 0.000020 rs80282562
CFTR:c.543_546delTAGT frameshift_variant rs397508750
CFTR:c.1209+1G>A splice_donor_variant rs397508176
CFTR:c.4426C>T nonsense 0.000065 rs374705585
CFTR:c.3140-26A>G intron_variant 0.000105 rs76151804
CFTR:c.3160C>G missense_variant rs397508510
CFTR:c.3181G>C missense_variant 0.000150 rs142394380
CFTR:c.3194T>C missense_variant rs121909036
CFTR:c.2551C>T nonsense 0.000010 rs121909012
CFTR:c.2583delT frameshift_variant rs397508399
CFTR:c.2589_2599delAATTTGGTGCT frameshift_variant rs397508400
CFTR:c.2601dupA frameshift_variant rs397508405
CFTR:c.2657+5G>A intron_variant 0.000190 rs80224560
CFTR:c.2658-1G>C splice_acceptor_variant rs397508416
CFTR:c.2668C>T nonsense rs79633941
CFTR:c.1466C>A nonsense 0.000032 rs397508211
CFTR:c.1475C>T missense_variant rs121909017
CFTR:c.2780T>C missense_variant rs397508435
CFTR:c.2810dupT frameshift_variant rs193922510
CFTR:c.2825delT frameshift_variant rs397508441
CFTR:c.2834C>T missense_variant 0.000100 rs397508442
CFTR:c.1000C>T missense_variant 0.000135 rs121909011
CFTR:c.2896delA frameshift_variant rs397508451
CFTR:c.2908G>A missense_variant rs397508453
CFTR:c.2909G>A missense_variant 0.000010 rs386134230
CFTR:c.2988G>A synonymous_variant 0.000032 rs121908797
CFTR:c.2988+1G>A splice_donor_variant 0.000160 rs75096551
CFTR:c.2989-2A>G splice_acceptor_variant rs193922515
CFTR:c.2989-1G>A splice_acceptor_variant rs397508470
CFTR:c.2993delT frameshift_variant rs1057516415
CFTR:c.3002_3003delTG frameshift_variant rs397508477
CFTR:c.3022delG frameshift_variant rs397508482
CFTR:c.3039delC frameshift_variant rs121908781
CFTR:c.3067_3072delATAGTG 0.000030 rs397508492|rs121908767
CFTR:c.3103C>T nonsense rs397508496
CFTR:c.577G>A nonsense rs397508759
CFTR:c.3139_3139+1delGG splice_donor_variant rs397508505
CFTR:c.1680-877G>T intron_variant 0.000032 rs397508261
CFTR:c.1680-1G>A splice_acceptor_variant 0.000010 rs121908794
CFTR:c.1682C>A missense_variant rs121909047
CFTR:c.1692delA frameshift_variant rs193922505
CFTR:c.3196C>T missense_variant 0.000010 rs78194216
CFTR:c.1367T>C missense_variant 0.000420 rs193922500
CFTR:c.1373delG frameshift_variant 0.000065 rs397508196
CFTR:c.1393-2A>G splice_acceptor_variant 0.000010 rs397508201
CFTR:c.1393-1G>A splice_acceptor_variant 0.000050 rs397508200
CFTR:c.1397C>G nonsense 0.000065 rs121908805
CFTR:c.1397C>G nonsense rs121908805
CFTR:c.1400T>C missense_variant 0.000105 rs139573311
CFTR:c.1418delG frameshift_variant rs397508205
CFTR:c.1865G>A missense_variant 0.000243 rs121908759
CFTR:c.3276C>G nonsense rs121908761
CFTR:c.1477C>T nonsense 0.000110 rs77101217
CFTR:c.1521_1523delCTT 0.007597 rs113993960
CFTR:c.1545_1546delTA frameshift_variant rs121908776
CFTR:c.1558G>T missense_variant 0.000032 rs77646904
CFTR:c.1572C>A nonsense 0.000032 rs121908754
CFTR:c.1573C>T nonsense rs397508227
CFTR:c.1585-8G>A intron_variant rs193922503
CFTR:c.3528delC frameshift_variant 0.000065 rs121908747
CFTR:c.3532_3535dupTCAA frameshift_variant rs387906378
CFTR:c.1021_1022dupTC frameshift_variant 0.000065 rs1131692275|rs387906360
CFTR:c.1040G>C missense_variant 0.000200 rs77932196
CFTR:c.3611G>A nonsense rs121908764
CFTR:c.3612G>A nonsense 0.000010 rs121908765
CFTR:c.3691delT frameshift_variant rs121908783
CFTR:c.3700A>G missense_variant 0.000010 rs75389940
CFTR:c.3712C>T nonsense rs121908766
CFTR:c.1679G>C missense_variant 0.000105 rs80055610
CFTR:c.3139+1delG splice_donor_variant rs1057516794
CFTR:c.1679+1G>C splice_donor_variant rs397508263
CFTR:c.3718-2477C>T intron_variant 0.000065 rs75039782
CFTR:c.3718-3T>G intron_variant 0.000010 rs397508596
CFTR:c.3718-1G>A splice_acceptor_variant rs387906369
CFTR:c.3731G>T missense_variant 0.000020 rs267606723
CFTR:c.1721C>A missense_variant rs121908758
CFTR:c.1753G>T nonsense 0.000020 rs397508296
CFTR:c.3208C>T missense_variant 0.000113 rs202179988
CFTR:c.3209G>A missense_variant 0.000703 rs78769542
CFTR:c.3222T>A missense_variant 0.000105 rs186045772
CFTR:c.3230T>C missense_variant 0.000055 rs139304906
CFTR:c.1792_1798delAAAACTA frameshift_variant rs397508303
CFTR:c.3266G>A nonsense 0.000010 rs78802634
CFTR:c.3276C>G nonsense 0.000065 rs121908761
CFTR:c.2T>A missense_variant 0.000020 rs397508476
CFTR:c.3293G>A nonsense rs397508532
CFTR:c.3294G>C nonsense rs397508533
CFTR:c.948delT frameshift_variant rs121908744
CFTR:c.987delA frameshift_variant rs397508824
CFTR:c.988G>T nonsense rs79031340
CFTR:c.3454G>C missense_variant 0.000230 rs75541969
CFTR:c.1007T>A missense_variant rs397508139
CFTR:c.1013C>T missense_variant 0.000040 rs77409459
CFTR:c.1A>G missense_variant 0.000040 rs397508328
CFTR:c.3717+4A>G intron_variant rs387906362
CFTR:c.11C>A nonsense 0.000032 rs397508173
CFTR:c.50delT frameshift_variant rs397508742
CFTR:c.1040G>C missense_variant 0.000020 rs77932196
CFTR:c.1055G>A missense_variant 0.000030 rs121908753
CFTR:c.4231C>T nonsense rs397508701
CFTR:c.4234C>T nonsense 0.000010 rs397508702
CFTR:c.4242+1G>T splice_donor_variant 0.000055 rs372227120
CFTR:c.4251delA frameshift_variant rs397508706
CFTR:c.4252G>T nonsense rs397508707
CFTR:c.4300_4301dupAG frameshift_variant rs397508709
CFTR:c.1203G>A nonsense rs397508175
CFTR:c.3747delG frameshift_variant rs797045159
CFTR:c.115C>T nonsense rs397508168
CFTR:c.1679G>C missense_variant rs80055610
CFTR:c.3744delA frameshift_variant rs121908784
CFTR:c.3368-2A>T splice_acceptor_variant 0.000010 rs755416052
CFTR:c.1128dupA frameshift_variant rs397508163
CFTR:c.658C>T nonsense 0.000010 rs397508778
CFTR:c.164+1G>A splice_donor_variant rs397508243
CFTR:c.-9_14del rs397508136
CFTR:c.3302T>A missense_variant 0.000010 rs36210737
CFTR:c.3472C>T nonsense 0.000040 rs79850223
CFTR:c.3368-2A>G splice_acceptor_variant 0.000010 rs755416052
CFTR:c.1117-1G>A splice_acceptor_variant rs797045160
CFTR:c.3304A>T nonsense rs397508536
CFTR:c.3310G>T nonsense rs397508538
CFTR:c.3484C>T nonsense 0.000075 rs74767530
CFTR:c.1116+1G>A splice_donor_variant rs397508158
CFTR:c.53+1G>T splice_donor_variant 0.000010 rs397508746
CFTR:c.1081delT frameshift_variant rs387906361
CFTR:c.1202G>A nonsense rs397508174
CFTR:c.137C>A missense_variant rs151020603
CFTR:c.79G>A nonsense 0.000010 rs397508796
CFTR:c.3197G>A missense_variant 0.000060 rs121909019
CFTR:c.1675G>A missense_variant 0.000060 rs75549581

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

Мутация Тип Частота SNP
CFTR:c.1973_1985delGAAATTCAATCCTinsAGAAA frameshift_variant rs121908780
CFTR:c.861_865delCTTAA frameshift_variant 0.000010 rs397508805
CFTR:c.2012delT frameshift_variant rs121908812
CFTR:c.1766+3A>G intron_variant rs397508298
CFTR:c.1923_1931delCTCAAAACTinsA frameshift_variant rs121908779
CFTR:c.3883delA frameshift_variant rs397508630
CFTR:c.3889dupT frameshift_variant rs121908808
CFTR:c.2051_2052delAAinsG frameshift_variant rs121908799
CFTR:c.2053dupC frameshift_variant rs797045162
CFTR:c.3851_3852dupAA frameshift_variant rs1057517404
CFTR:c.4077_4080delTGTTinsAA frameshift_variant rs397508668
CFTR:c.4143C>A nonsense rs397508683
CFTR:c.3988_3989delCA frameshift_variant rs1057516457
CFTR:c.720_741del22 frameshift_variant rs121908804
CFTR:c.739_742dupTACA frameshift_variant rs1057517342
CFTR:c.744-2A>G splice_acceptor_variant rs1057516646
CFTR:c.3944_3951delTATGGAAA frameshift_variant rs1057516527
CFTR:c.3963+1G>C splice_donor_variant rs672601314
CFTR:c.3964-78_4242+577del rsNA
CFTR:c.3533C>A nonsense rs1057516609
CFTR:c.2463_2464delTG frameshift_variant rs797045156
CFTR:c.2483dupA frameshift_variant rs1057517276
CFTR:c.2490+2T>C splice_donor_variant rs1057516216
CFTR:c.1327_1330dupGATA frameshift_variant rs397508189
CFTR:c.1340delA frameshift_variant rs397508192
CFTR:c.233dupT frameshift_variant rs397508360
CFTR:c.292C>T nonsense 0.000010 rs397508461
CFTR:c.325_327delTATinsG frameshift_variant rs121908798
CFTR:c.2554dupT frameshift_variant rs1057517068
CFTR:c.2735C>T nonsense rs121909034
CFTR:c.1477_1478delCA frameshift_variant rs121908775
CFTR:c.2854delA frameshift_variant rs1057517032
CFTR:c.2859_2890del32 frameshift_variant rs397508445
CFTR:c.2989-977_3367+248del rsNA
CFTR:c.2997_3000delAATT frameshift_variant rs397508472
CFTR:c.1820_1903del84 rs121908777
CFTR:c.1519_1521delATC 0.000065 rs121908745
CFTR:c.3495delG frameshift_variant rs1057516970
CFTR:c.1021T>C missense_variant rs397508144
CFTR:c.1029delC frameshift_variant 0.000030 rs121908774
CFTR:c.3659delC frameshift_variant rs121908811
CFTR:c.1703T>A nonsense rs397508273
CFTR:c.1705T>C missense_variant 0.000100 rs397508276
CFTR:c.865A>T nonsense rs1057516619
CFTR:c.888_889dupTC frameshift_variant rs1057516387
CFTR:c.1006_1007insG frameshift_variant rs397508138
CFTR:c.4272C>T nonsense rs1800135
CFTR:c.3254A>G missense_variant rs79635528
CFTR:c.1155_1156dup frameshift_variant rs121908785
CFTR:c.56G>A nonsense rs1057516232