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Prenatal characterization of a novel inverted SMAD2 duplication by mate-pair sequencing in a fetus with dextrocardia
  • +6
  • Cinthya Zepeda-Mendoza,
  • Anna Essendrup,
  • Stephanie Smoley,
  • Sarah Johnson,
  • Nicole Hoppman,
  • George Vasmatzis,
  • Daniel Jackson,
  • Hutton Kearney,
  • Linda Baughn
Cinthya Zepeda-Mendoza
ARUP Laboratories

Corresponding Author:[email protected]

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Anna Essendrup
Mayo Clinic Department of Laboratory Medicine and Pathology
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Stephanie Smoley
Mayo Clinic Department of Laboratory Medicine and Pathology
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Sarah Johnson
Mayo Clinic Center for Individualized Medicine
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Nicole Hoppman
Mayo Clinic Department of Laboratory Medicine and Pathology
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George Vasmatzis
Mayo Clinic Center for Individualized Medicine
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Daniel Jackson
University of Missouri System
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Hutton Kearney
Mayo Clinic Department of Laboratory Medicine and Pathology
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Linda Baughn
Mayo Clinic Department of Laboratory Medicine and Pathology
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Abstract

A fetus harboring a duplication of SMAD2 exons 1-6 presented with dextrocardia and pulmonary hypoplasia. Mate-pair sequencing revealed the duplication to be in inverted tandem orientation to the wild-type SMAD2 allele, disrupting its sequence and decreasing expression. These observations suggest SMAD2 to be responsible for the fetal dextrocardia.

Peer review status:ACCEPTED

03 Apr 2020Submitted to Clinical Case Reports
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01 Oct 2020Submission Checks Completed
01 Oct 2020Assigned to Editor
11 Oct 2020Reviewer(s) Assigned
28 Oct 2020Review(s) Completed, Editorial Evaluation Pending
01 Nov 2020Editorial Decision: Accept