A Semiconductor Chip-Based Next Generation Sequencing Procedure for the Main Pulmonary Hypertension Genes

被引：9

作者：

Gomez, Juan ^{[1
]}

Reguero, Julian R. ^{[2
]}

Alvarez, Celso ^{[3
]}

Junquera, Manuel R. ^{[2
]}

Arango, Ana ^{[1
]}

Moris, Cesar ^{[2
,4
]}

Coto, Eliecer ^{[1
,4
,5
]}

机构：

[1] Hosp Univ Cent Asturias, Genet Mol Lab Med Fdn Renal IRSIN FRIAT, Oviedo 33011, Spain

[2] Hosp Univ Cent Asturias, Cardiol Fdn Asturcor, Oviedo 33011, Spain

[3] Hosp Univ Cent Asturias, Serv Neumol, Oviedo 33011, Spain

[4] Univ Oviedo, Dept Med, Oviedo, Spain

[5] Red Invest Renal REDINREN, Madrid, Spain

来源：

LUNG | 2015年 / 193卷 / 04期

关键词：

Pulmonary hypertension; Next generation sequencing; Ion torrent sequencing; Gene mutation; MUTATION;

D O I：

10.1007/s00408-015-9736-4

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

The aim of this study was to characterize the mutational spectrum of pulmonary hypertension (PH) patients through a next generation sequencing platform. In a total of 22 patients, the BMPR2, SMAD9, CAV1, KCNK3, and EIF2AK4 genes were sequenced with semiconductor chips and the ion torrent personal genome machine. We found six putative mutations in SMAD (p.R263Q), BMPR2 (p.S301P, p.T493I), CAV1 (p.V155I), and EIF2AK4 (p.L489P, p.P1115L) in five patients. One patient was compound heterozygous for BMPR2 ? SMAD mutations, and one patient was homozygous for EIF2AK4 p.P1115L. The reported procedure would facilitate the rapid mutational screening of large cohorts of PH patients.

引用

页码：571 / 574

页数：4

共 7 条

[1] EIF2AK4 Mutations in Pulmonary Capillary Hemangiomatosis
Best, D. Hunter
Sumner, Kelli L.
Austin, Eric D.
Chung, Wendy K.
Brown, Lynette M.
Borczuk, Alain C.
Rosenzweig, Erika B.
Bayrak-Toydemir, Pinar
Mao, Rong
Cahill, Barbara C.
Tazelaar, Henry D.
Leslie, Kevin O.
Hemnes, Anna R.
Robbins, Ivan M.
Elliott, C. Gregory
[J]. CHEST, 2014, 145 (02) : 231 - 236
[2] EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension
Eyries, Melanie
Montani, David
Girerd, Barbara
Perret, Claire
Leroy, Anne
Lonjou, Christine
Chelghoum, Nadjim
Coulet, Florence
Bonnet, Damien
Dorfmueller, Peter
Fadel, Elie
Sitbon, Olivier
Simonneau, Gerald
Tregouet, David-Alexandre
Humbert, Marc
Soubrier, Florent
[J]. NATURE GENETICS, 2014, 46 (01) : 65 - +
[3] BMPR2 Germline Mutation in Chronic Thromboembolic Pulmonary Hypertension
Feng, Yu-Xuan
Liu, Dong
Sun, Ming-Li
Jiang, Xin
Sun, Na
Mao, Yi-Min
Jing, Zhi-Cheng
[J]. LUNG, 2014, 192 (04) : 625 - 627
[4] Mutation Analysis of the Main Hypertrophic Cardiomyopathy Genes Using Multiplex Amplification and Semiconductor Next-Generation Sequencing
Gomez, Juan
Reguero, Julian R.
Moris, Cesar
Martin, Maria
Alvarez, Victoria
Alonso, Belen
Iglesias, Sara
Coto, Eliecer
[J]. CIRCULATION JOURNAL, 2014, 78 (12) : 2963 - U230
[5] Non Optical Semi-Conductor Next Generation Sequencing of the Main Cardiac QT-Interval Duration Genes in Pooled DNA Samples
Gomez, Juan
Reguero, Julian R.
Moris, Cesar
Alvarez, Victoria
Coto, Eliecer
[J]. JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH, 2014, 7 (01) : 133 - 137
[6] Genetics and Genomics of Pulmonary Arterial Hypertension
Soubrier, Florent
Chung, Wendy K.
Machado, Rajiv
Gruenig, Ekkehard
Aldred, Micheala
Geraci, Mark
Loyd, James E.
Elliott, C. Gregory
Trembath, Richard C.
Newman, John H.
Humbert, Marc
[J]. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2013, 62 (25) : D13 - D21
[7] A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies
Tenorio, J.
Navas, P.
Barrios, E.
Fernandez, L.
Nevado, J.
Quezada, C. A.
Lopez-Meseguer, M.
Arias, P.
Mena, R.
Lobo, J. L.
Alvarez, C.
Heath, K.
Escribano-Subias, P.
Lapunzina, P.
[J]. CLINICAL GENETICS, 2015, 88 (06) : 579 - 583

← 1 →