Фенилкетонурия

Фенилкетонурия – это генетическое заболевание, связанное с нарушением обмена аминокислоты фенилаланина, причиной развития которого является мутация в гене PAH. При отсутствии своевременного специфического лечения вызывает тяжелое поражение нервной системы: глубокую умственную отсталость, судороги, повышенную возбудимость, двигательную гиперактивность. Частота встречаемости 1:10000 новорожденных во всем мире. Поражаются оба пола.

Узнать больше: https://ghr.nlm.nih.gov/condition/phenylketonuria

Число исследованных генов: 1

Число исследованных мутаций: 69

Были исследованы мутации в следующих генах:

PAH

Мутации которые не были обнаружены:

Мутация Тип Частота SNP
PAH:c.842+5G>A intron_variant 0.000055 rs62516146
PAH:c.1315+1G>T splice_donor_variant rs5030861
PAH:c.898G>T missense_variant 0.000375 rs5030853
PAH:c.611A>G missense_variant 0.000020 rs62514927
PAH:c.165T>G missense_variant 0.000090 rs199475598
PAH:c.890G>A missense_variant 0.000010 rs62642939
PAH:c.527G>T missense_variant 0.000115 rs74486803
PAH:c.721C>T missense_variant 0.000140 rs76687508
PAH:c.638T>C missense_variant rs62516109
PAH:c.1A>G missense_variant 0.000010 rs62514891
PAH:c.926C>T missense_variant 0.000055 rs62642935
PAH:c.165delT frameshift_variant 0.000020 rs199475566
PAH:c.1315+1G>A splice_donor_variant 0.000388 rs5030861
PAH:c.932T>C missense_variant 0.000010 rs62642936
PAH:c.1045T>C missense_variant 0.000115 rs62508646
PAH:c.916A>G missense_variant 0.000010 rs62642934
PAH:c.814G>T nonsense 0.000030 rs62514952
PAH:c.896T>G missense_variant 0.000160 rs62642933
PAH:c.1223G>A missense_variant 0.000125 rs5030859
PAH:c.722G>A missense_variant 0.000100 rs62508730
PAH:c.1241A>G missense_variant 0.000330 rs5030860
PAH:c.533A>G missense_variant 0.000050 rs77958223
PAH:c.1055delG frameshift_variant 0.000010 rs62516094
PAH:c.842C>T missense_variant 0.000100 rs5030851
PAH:c.1065+1G>A splice_donor_variant rs62516147
PAH:c.755G>A missense_variant 0.000032 rs62644503
PAH:c.842+1G>A splice_donor_variant 0.000030 rs5030852
PAH:c.526C>T nonsense 0.000030 rs199475575
PAH:c.806delT frameshift_variant 0.000032 rs62508687
PAH:c.168+5G>C intron_variant 0.000040 rs62507288
PAH:c.442-1G>A splice_acceptor_variant rs62514907
PAH:c.728G>A missense_variant 0.000235 rs62508588
PAH:c.688G>A missense_variant 0.000310 rs62516152
PAH:c.117C>G missense_variant 0.000145 rs62642926
PAH:c.194T>C missense_variant 0.000290 rs75193786
PAH:c.727C>T nonsense 0.000050 rs5030846
PAH:c.1139C>T missense_variant 0.000343 rs62642937
PAH:c.1068C>G nonsense rs62516095
PAH:c.1066-3C>T intron_variant 0.000040 rs62507344
PAH:c.1162G>A missense_variant 0.000085 rs62516101
PAH:c.441+1G>A splice_donor_variant 0.000055 rs62517166
PAH:c.1169A>G missense_variant 0.000100 rs5030856
PAH:c.838G>A missense_variant 0.000120 rs62508698
PAH:c.204A>T missense_variant 0.000040 rs76394784
PAH:c.1243G>A missense_variant 0.000060 rs62644499
PAH:c.1238G>C missense_variant rs79931499
PAH:c.782G>A missense_variant rs5030849
PAH:c.1222C>T missense_variant 0.000753 rs5030858
PAH:c.60+5G>T intron_variant 0.000050 rs62514895
PAH:c.1042C>G missense_variant 0.000075 rs62516092
PAH:c.1066-11G>A intron_variant 0.000423 rs5030855
PAH:c.1033G>A missense_variant 0.000020 rs62516062
PAH:c.441+5G>T intron_variant 0.000120 rs62507321
PAH:c.331C>T nonsense 0.000050 rs76296470
PAH:c.745C>T missense_variant 0.000030 rs74503222
PAH:c.1157A>G missense_variant 0.000100 rs62516141
PAH:c.1184C>A missense_variant 0.000055 rs62508736
PAH:c.1208C>T missense_variant 0.000513 rs5030857
PAH:c.781C>T nonsense 0.000010 rs5030850
PAH:c.116_118delTCT rs199475565
PAH:c.442-2A>C splice_acceptor_variant rs281865448
PAH:c.1199+1G>C splice_donor_variant rs62509015
PAH:c.143T>C missense_variant 0.000090 rs5030841
PAH:c.829T>G missense_variant 0.000010 rs78655458
PAH:c.473G>A missense_variant 0.000150 rs5030843
PAH:c.776C>T missense_variant 0.000010 rs118203921
PAH:c.1068C>G nonsense 0.000032 rs62516095
PAH:c.754C>T missense_variant 0.000125 rs5030847
PAH:c.782G>A missense_variant 0.000129 rs5030849

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

Мутация Тип Частота SNP
PAH:c.1315+2T>C splice_donor_variant rs1799970
PAH:c.1301C>A missense_variant rs199475659
PAH:c.1355dup frameshift_variant rs199475641
PAH:c.632delC frameshift_variant 0.000020 rs62514929
PAH:c.558_559delAT frameshift_variant 0.000040 rs62517207
PAH:c.580_581delCT frameshift_variant rs62508587
PAH:c.664_665delGA frameshift_variant 0.000032 rs62514936
PAH:c.941C>A missense_variant rs62642940
PAH:c.847A>T missense_variant 0.000020 rs62517168
PAH:c.631C>A missense_variant 0.000032 rs62514931
PAH:c.168_168+1delinsAA splice_donor_variant rs786204457
PAH:c.168+1G>A splice_donor_variant rs62514898
PAH:c.561G>A nonsense rs62507336
PAH:c.992T>G missense_variant rs199475614
PAH:c.722delG frameshift_variant rs199475657
PAH:c.724C>T missense_variant rs199475578
PAH:c.694C>T nonsense 0.000105 rs62507348
PAH:c.1024delG frameshift_variant rs63581460
PAH:c.1282C>T nonsense rs567261857
PAH:c.581T>C missense_variant 0.000010 rs5030844
PAH:c.975C>G nonsense rs62508573
PAH:c.47_48delCT frameshift_variant 0.000010 rs62642906
PAH:c.830A>G missense_variant 0.000010 rs62516155
PAH:c.329delC frameshift_variant rs1057516389
PAH:c.745delC frameshift_variant rs1057516914
PAH:c.790delC frameshift_variant rs1057517009
PAH:c.1298dup frameshift_variant rs1057516377
PAH:c.1089delG frameshift_variant rs5030654
PAH:c.844G>A missense_variant 0.000010 rs199475582
PAH:c.58C>T nonsense rs199475585
PAH:c.1147C>T nonsense rs1057516699|rs1037293795
PAH:c.498C>A nonsense rs199475645
PAH:c.775G>A missense_variant 0.000010 rs62642932
PAH:c.284_286delTCA 0.001165 rs62508727
PAH:c.740G>A missense_variant rs199475579
PAH:c.352+2dupT splice_donor_variant rs1057516604
PAH:c.400C>T nonsense rs199475680
PAH:c.472C>T missense_variant 0.000115 rs75166491
PAH:c.508C>G missense_variant rs199475655
PAH:c.208_210delTCT 0.000020 rs62642094