Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Aged
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Bone Morphogenetic Protein Receptors, Type II / genetics
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Caveolin 1 / genetics
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DNA Mutational Analysis
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Female
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Genetic Testing / methods
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Genomics
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Humans
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Hypertension, Pulmonary / genetics*
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Hypertension, Pulmonary / physiopathology
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Male
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Middle Aged
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Mutation
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Nerve Tissue Proteins / genetics
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Oligonucleotide Array Sequence Analysis / instrumentation
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Oligonucleotide Array Sequence Analysis / methods*
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Potassium Channels, Tandem Pore Domain / genetics
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Protein Serine-Threonine Kinases / genetics
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Semiconductors
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Smad8 Protein / genetics
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Spain
Substances
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CAV1 protein, human
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Caveolin 1
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Nerve Tissue Proteins
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Potassium Channels, Tandem Pore Domain
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SMAD9 protein, human
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Smad8 Protein
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potassium channel subfamily K member 3
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EIF2AK4 protein, human
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Protein Serine-Threonine Kinases
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BMPR2 protein, human
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Bone Morphogenetic Protein Receptors, Type II