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