Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-11

AUTHORS

Ruwan A. Weerakkody, Jana Vandrovcova, Christina Kanonidou, Michael Mueller, Piyush Gampawar, Yousef Ibrahim, Penny Norsworthy, Jennifer Biggs, Abdulshakur Abdullah, David Ross, Holly A. Black, David Ferguson, Nicholas J. Cheshire, Hanadi Kazkaz, Rodney Grahame, Neeti Ghali, Anthony Vandersteen, F. Michael Pope, Timothy J. Aitman

ABSTRACT

PURPOSE: Ehlers-Danlos syndrome (EDS) comprises a group of overlapping hereditary disorders of connective tissue with significant morbidity and mortality, including major vascular complications. We sought to identify the diagnostic utility of a next-generation sequencing (NGS) panel in a mixed EDS cohort. METHODS: We developed and applied PCR-based NGS assays for targeted, unbiased sequencing of 12 collagen and aortopathy genes to a cohort of 177 unrelated EDS patients. Variants were scored blind to previous genetic testing and then compared with results of previous Sanger sequencing. RESULTS: Twenty-eight pathogenic variants in COL5A1/2, COL3A1, FBN1, and COL1A1 and four likely pathogenic variants in COL1A1, TGFBR1/2, and SMAD3 were identified by the NGS assays. These included all previously detected single-nucleotide and other short pathogenic variants in these genes, and seven newly detected pathogenic or likely pathogenic variants leading to clinically significant diagnostic revisions. Twenty-two variants of uncertain significance were identified, seven of which were in aortopathy genes and required clinical follow-up. CONCLUSION: Unbiased NGS-based sequencing made new molecular diagnoses outside the expected EDS genotype-phenotype relationship and identified previously undetected clinically actionable variants in aortopathy susceptibility genes. These data may be of value in guiding future clinical pathways for genetic diagnosis in EDS.Genet Med 18 11, 1119-1127. More... »

PAGES

1119

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/gim.2016.14

DOI

http://dx.doi.org/10.1038/gim.2016.14

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1037329312

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27011056


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