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High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections

Standard

High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections. / Kathiravel, Ushanthine; Keyser, Britta; Hoffjan, Sabine; Kötting, Judith; Müller, Melanie; Sivalingam, Sugirthan; Bonin, Michael; Arslan-Kirchner, Mine; von Kodolitsch, Yskert; Binner, Priska; Scheffold, Thomas; Stuhrmann, Manfred; Waldmüller, Stephan.

in: MOL CELL PROBE, Jahrgang 27, Nr. 2, 04.2013, S. 103-108.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Kathiravel, U, Keyser, B, Hoffjan, S, Kötting, J, Müller, M, Sivalingam, S, Bonin, M, Arslan-Kirchner, M, von Kodolitsch, Y, Binner, P, Scheffold, T, Stuhrmann, M & Waldmüller, S 2013, 'High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections', MOL CELL PROBE, Jg. 27, Nr. 2, S. 103-108. https://doi.org/10.1016/j.mcp.2012.10.002

APA

Kathiravel, U., Keyser, B., Hoffjan, S., Kötting, J., Müller, M., Sivalingam, S., Bonin, M., Arslan-Kirchner, M., von Kodolitsch, Y., Binner, P., Scheffold, T., Stuhrmann, M., & Waldmüller, S. (2013). High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections. MOL CELL PROBE, 27(2), 103-108. https://doi.org/10.1016/j.mcp.2012.10.002

Vancouver

Kathiravel U, Keyser B, Hoffjan S, Kötting J, Müller M, Sivalingam S et al. High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections. MOL CELL PROBE. 2013 Apr;27(2):103-108. https://doi.org/10.1016/j.mcp.2012.10.002

Bibtex

@article{41727b305af94982a3f13034edfe5ca0,
title = "High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections",
abstract = "Thoracic aortic aneurysm and dissection is associated with increasing mortality rate that may occur as part of a syndrome or as an isolated familial condition. Several genes have been implicated in causing TAAD, though an appropriate genetic test for their parallel testing is not yet available. Herein, we describe the novel 117-kb {"}MFSTAAD chip{"} that may help to understand the genetic basis of TAAD. A custom duplicate resequencing assay was developed to cover eight genes previously described in TAAD; FBN1, TGFBR1&2, COL3A1, MYH11, ACTA2, SLC2A10 and NOTCH1. GSEQ and SeqC software were used for data analysis. The analytical sensitivity of the assay was validated by the recognition of 182 known mutations (153 point mutations, 21 deletions, 7 insertions and 1 duplication) and a cohort of 28 patients were selected to determine the mutation yield, whereby 18 of them were previously negative for mutations in the genes FBN1 and TGFBR2. The assay had significantly higher sensitivity for point mutations (100%) and the largest deletion of 16 bp was detectable through a decline in the hybridization strength. The overall analytical sensitivity was 85%. Mutation testing of 28 unrelated TAAD patients revealed 4 known and 6 possibly pathogenic mutations with a mutation yield of 32%. The MFSTAAD chip is an alternative tool to next-generation sequencing that allows parallel analysis of several genes on a single platform. Refinements in the probe design and data analysis software will increase the analytical sensitivity of insertions and deletions making this assay even more applicable for clinical testing.",
keywords = "Aneurysm, Dissecting/genetics, Aortic Aneurysm, Thoracic/genetics, Base Sequence, Computer Simulation, DNA Mutational Analysis/instrumentation, False Positive Reactions, Fibrillin-1, Fibrillins, Genetic Predisposition to Disease, Humans, Microfilament Proteins/genetics, Molecular Sequence Data, Mutation, Oligonucleotide Array Sequence Analysis/methods, Oligonucleotides, Sensitivity and Specificity",
author = "Ushanthine Kathiravel and Britta Keyser and Sabine Hoffjan and Judith K{\"o}tting and Melanie M{\"u}ller and Sugirthan Sivalingam and Michael Bonin and Mine Arslan-Kirchner and {von Kodolitsch}, Yskert and Priska Binner and Thomas Scheffold and Manfred Stuhrmann and Stephan Waldm{\"u}ller",
note = "Copyright {\textcopyright} 2012 Elsevier Ltd. All rights reserved.",
year = "2013",
month = apr,
doi = "10.1016/j.mcp.2012.10.002",
language = "English",
volume = "27",
pages = "103--108",
journal = "MOL CELL PROBE",
issn = "0890-8508",
publisher = "Academic Press Inc.",
number = "2",

}

RIS

TY - JOUR

T1 - High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections

AU - Kathiravel, Ushanthine

AU - Keyser, Britta

AU - Hoffjan, Sabine

AU - Kötting, Judith

AU - Müller, Melanie

AU - Sivalingam, Sugirthan

AU - Bonin, Michael

AU - Arslan-Kirchner, Mine

AU - von Kodolitsch, Yskert

AU - Binner, Priska

AU - Scheffold, Thomas

AU - Stuhrmann, Manfred

AU - Waldmüller, Stephan

N1 - Copyright © 2012 Elsevier Ltd. All rights reserved.

PY - 2013/4

Y1 - 2013/4

N2 - Thoracic aortic aneurysm and dissection is associated with increasing mortality rate that may occur as part of a syndrome or as an isolated familial condition. Several genes have been implicated in causing TAAD, though an appropriate genetic test for their parallel testing is not yet available. Herein, we describe the novel 117-kb "MFSTAAD chip" that may help to understand the genetic basis of TAAD. A custom duplicate resequencing assay was developed to cover eight genes previously described in TAAD; FBN1, TGFBR1&2, COL3A1, MYH11, ACTA2, SLC2A10 and NOTCH1. GSEQ and SeqC software were used for data analysis. The analytical sensitivity of the assay was validated by the recognition of 182 known mutations (153 point mutations, 21 deletions, 7 insertions and 1 duplication) and a cohort of 28 patients were selected to determine the mutation yield, whereby 18 of them were previously negative for mutations in the genes FBN1 and TGFBR2. The assay had significantly higher sensitivity for point mutations (100%) and the largest deletion of 16 bp was detectable through a decline in the hybridization strength. The overall analytical sensitivity was 85%. Mutation testing of 28 unrelated TAAD patients revealed 4 known and 6 possibly pathogenic mutations with a mutation yield of 32%. The MFSTAAD chip is an alternative tool to next-generation sequencing that allows parallel analysis of several genes on a single platform. Refinements in the probe design and data analysis software will increase the analytical sensitivity of insertions and deletions making this assay even more applicable for clinical testing.

AB - Thoracic aortic aneurysm and dissection is associated with increasing mortality rate that may occur as part of a syndrome or as an isolated familial condition. Several genes have been implicated in causing TAAD, though an appropriate genetic test for their parallel testing is not yet available. Herein, we describe the novel 117-kb "MFSTAAD chip" that may help to understand the genetic basis of TAAD. A custom duplicate resequencing assay was developed to cover eight genes previously described in TAAD; FBN1, TGFBR1&2, COL3A1, MYH11, ACTA2, SLC2A10 and NOTCH1. GSEQ and SeqC software were used for data analysis. The analytical sensitivity of the assay was validated by the recognition of 182 known mutations (153 point mutations, 21 deletions, 7 insertions and 1 duplication) and a cohort of 28 patients were selected to determine the mutation yield, whereby 18 of them were previously negative for mutations in the genes FBN1 and TGFBR2. The assay had significantly higher sensitivity for point mutations (100%) and the largest deletion of 16 bp was detectable through a decline in the hybridization strength. The overall analytical sensitivity was 85%. Mutation testing of 28 unrelated TAAD patients revealed 4 known and 6 possibly pathogenic mutations with a mutation yield of 32%. The MFSTAAD chip is an alternative tool to next-generation sequencing that allows parallel analysis of several genes on a single platform. Refinements in the probe design and data analysis software will increase the analytical sensitivity of insertions and deletions making this assay even more applicable for clinical testing.

KW - Aneurysm, Dissecting/genetics

KW - Aortic Aneurysm, Thoracic/genetics

KW - Base Sequence

KW - Computer Simulation

KW - DNA Mutational Analysis/instrumentation

KW - False Positive Reactions

KW - Fibrillin-1

KW - Fibrillins

KW - Genetic Predisposition to Disease

KW - Humans

KW - Microfilament Proteins/genetics

KW - Molecular Sequence Data

KW - Mutation

KW - Oligonucleotide Array Sequence Analysis/methods

KW - Oligonucleotides

KW - Sensitivity and Specificity

U2 - 10.1016/j.mcp.2012.10.002

DO - 10.1016/j.mcp.2012.10.002

M3 - SCORING: Journal article

C2 - 23142374

VL - 27

SP - 103

EP - 108

JO - MOL CELL PROBE

JF - MOL CELL PROBE

SN - 0890-8508

IS - 2

ER -