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January 1, 2015Orphanet Journal of Rare DiseasesOpen Access

Next-generation sequencing-based panel testing of seven genes identified a causal mutation in 13% (34 of 264) of patients referred for heritable thoracic aortic disorders and related entities.

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Why the study?

Does NGS-based panel testing efficiently detect mutations in patients with heritable thoracic aortic disorders?

Population

264 unrelated probands referred for Heritable Thoracic Aortic Disorders and related entities. Patients…

Design

Cross-sectional

Key result

Next-generation sequencing-based panel testing of seven genes identified a causal mutation in 13% (34 of 264) of patients referred for heritable thoracic aortic disorders and related entities.

Authors

LCLaurence CampensBCBert CallewaertLMLaura Muiño Mosquera

Discussion

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Overview

Panel sequencing detects mutations in 13% of H-TAD referrals; supports broader adoption but leaves open need for prospective outcome studies.

Study Design

Type

Observational (n=264)

Multicenter

No

Structured PICO

Does NGS-based panel testing efficiently detect mutations in patients with heritable thoracic aortic disorders?

P
Population
264 unrelated probands (median age 42 years, 30.3% female) referred for heritable thoracic aortic disorders and related entities who underwent next-generation sequencing-based panel testing.
E
Exposure
Next Generation Sequencing (NGS) based screening of seven H-TAD-associated genes (FBN1, TGFBR1/2, TGFB2, SMAD3, ACTA2 and COL3A1)
O
Outcome
Mutation detection ratesurrogate

NGS-based panel testing for heritable thoracic aortic disorders reveals a mutation in 13% of patients, highlighting significant clinical overlap between syndromic and nonsyndromic entities.

Limitations

  • The NGS technology fails to detect larger deletions or insertions.
  • MLPA of panel genes other than FBN1 was not performed, potentially underestimating the mutation detection rate.
  • Mutation negative patients may carry a pathogenic mutation in a gene not included in the current 7-gene panel.

Cite This Study

Campens et al. (2015) conducted an observational in Heritable Thoracic Aortic Disorders (H-TAD) (n=264). Next Generation Sequencing (NGS) based gene panel testing was evaluated on Mutation detection rate. Next-generation sequencing-based panel testing of seven genes identified a causal mutation in 13% (34 of 264) of patients referred for heritable thoracic aortic disorders and related entities.

synapsesocial.com/papers/6a5e762d7b94c4b25b7ee515https://doi.org/10.1186/s13023-014-0221-6
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